NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 14, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000712994.8

Allele description [Variation Report for NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)]

NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)

Gene:

SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)

HGVS:

NC_000013.11:g.23334314A>G
NG_012342.1:g.104389T>C
NM_001278055.2:c.9121T>C
NM_014363.6:c.9562T>CMANE SELECT
NP_001264984.1:p.Phe3041Leu
NP_055178.3:p.Phe3188Leu
NC_000013.10:g.23908453A>G
NM_014363.4:c.9562T>C
NM_014363.5:c.9562T>C
p.Phe3188Leu

Protein change:

F3041L

Links:

dbSNP: rs137905181

NCBI 1000 Genomes Browser:

rs137905181

Molecular consequence:

NM_001278055.2:c.9121T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014363.6:c.9562T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000843555	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Jan 14, 2022)	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 29453517, 26467025
SCV001713615	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 2, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000843555

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Jan 14, 2022)

unknown

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001713615

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 2, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Probable Diagnosis of a Patient with Niemann-Pick Disease Type C: Managing Pitfalls of Exome Sequencing.

Zeiger WA, Jamal NI, Scheuner MT, Pittman P, Raymond KM, Morra M, Mishra SK.

JIMD Rep. 2018;41:47-51. doi: 10.1007/8904_2018_90. Epub 2018 Feb 17.

PubMed [citation]

PMID:: 29453517
PMCID:: PMC6122056

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV000843555.2

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

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

From Mayo Clinic Laboratories, Mayo Clinic, SCV001713615.1

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

#	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		1	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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