NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) AND 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Clinical significance:Uncertain significance (Last evaluated: May 5, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000987811.2

Allele description [Variation Report for NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)]

NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)

Gene:
SERAC1:serine active site containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.3
Genomic location:
Preferred name:
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
Other names:
p.C7W:TGC>TGG
HGVS:
  • NC_000006.12:g.158158343G>C
  • NG_032889.1:g.14938C>G
  • NM_032861.4:c.21C>GMANE SELECT
  • NP_116250.3:p.Cys7Trp
  • NC_000006.11:g.158579375G>C
  • NM_032861.3:c.21C>G
  • NR_073096.2:n.145C>G
Protein change:
C7W
Links:
dbSNP: rs139301835
NCBI 1000 Genomes Browser:
rs139301835
Molecular consequence:
  • NM_032861.4:c.21C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073096.2:n.145C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
Synonyms:
3-METHYLGLUTACONIC ACIDURIA, TYPE VI; 3-METHYLGLUTACONIC ACIDURIA WITH DYSTONIA-DEAFNESS, HEPATOPATHY, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL syndrome
Identifiers:
MONDO: MONDO:0013875; MedGen: C3553597; Orphanet: 352328; OMIM: 614739

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001137267Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link,

SCV001525114Baylor Geneticscriteria provided, single submitter
Uncertain significance
(May 5, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Mendelics, SCV001137267.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV001525114.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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