NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) AND not provided

Germline classification:: Conflicting classifications of pathogenicity (3 submissions)
Last evaluated:: Mar 1, 2025
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003222073.23

Allele description [Variation Report for NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)]

NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)

Gene:

MOCS1:molybdenum cofactor synthesis 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.2

Genomic location:

Preferred name:

NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr)

Other names:

p.Ile355Thr

HGVS:

NC_000006.12:g.39909873A>G
NG_009297.1:g.29638T>C
NM_001075098.4:c.1064T>C
NM_001358529.2:c.1064T>C
NM_001358530.2:c.1064T>CMANE SELECT
NM_001358531.2:c.803T>C
NM_001358533.2:c.803T>C
NM_001358534.2:c.803T>C
NM_005943.6:c.1064T>C
NP_001068566.1:p.Ile355Thr
NP_001345458.1:p.Ile355Thr
NP_001345459.1:p.Ile355Thr
NP_001345460.1:p.Ile268Thr
NP_001345462.1:p.Ile268Thr
NP_001345463.1:p.Ile268Thr
NP_005934.2:p.Ile355Thr
NP_005934.2:p.Ile355Thr
NC_000006.11:g.39877617A>G
NM_001075098.3:c.1064T>C
NM_005943.5:c.1064T>C
NM_005943.6:c.1064T>C
NR_033233.2:n.982T>C

Protein change:

I268T

Links:

dbSNP: rs143912353

NCBI 1000 Genomes Browser:

rs143912353

Molecular consequence:

NM_001075098.4:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001358529.2:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001358530.2:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001358531.2:c.803T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001358533.2:c.803T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001358534.2:c.803T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_005943.6:c.1064T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_033233.2:n.982T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003917058	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Mar 1, 2025)	germline	clinical testing	Citation Link,
SCV004227234	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 16, 2023)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 16429380, 21031595, 28900816, 34426522, 36296488, 25741868
SCV004801646	GenomeConnect - Brain Gene Registry	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003917058

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Mar 1, 2025)

germline

clinical testing

Citation Link,

SCV004227234

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 16, 2023)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV004801646

GenomeConnect - Brain Gene Registry

no classification provided

not provided

unknown

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	10	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	1	not provided	not provided	1	not provided	phenotyping only

Citations

PubMed

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study.

Macaya A, Brunso L, Fernández-Castillo N, Arranz JA, Ginjaar HB, Cuenca-León E, Corominas R, Roig M, Cormand B.

Neuropediatrics. 2005 Dec;36(6):389-94.

PubMed [citation]

PMID:: 16429380

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Reiss J, Hahnewald R.

Hum Mutat. 2011 Jan;32(1):10-8. doi: 10.1002/humu.21390. Review.

PubMed [citation]

PMID:: 21031595

See all PubMed Citations (6)

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV003917058.16

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	10	not provided	not provided	clinical testing	not provided

Description

MOCS1: BS1, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		10	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV004227234.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	PubMed (6)

Description

BS1, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		2	not provided	not provided	not provided

From GenomeConnect - Brain Gene Registry, SCV004801646.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	phenotyping only	not provided

Description

Variant classified as Uncertain significance and reported on 06-25-2021 by Invitae. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 28, 2025

ClinVar

Relating variation to medicine