NM_014363.6(SACS):c.4606G>T (p.Val1536Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489239.1

Allele description [Variation Report for NM_014363.6(SACS):c.4606G>T (p.Val1536Leu)]

NM_014363.6(SACS):c.4606G>T (p.Val1536Leu)

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.4606G>T (p.Val1536Leu)
HGVS:
  • NC_000013.11:g.23339270C>A
  • NG_012342.1:g.99433G>T
  • NM_001278055.2:c.4165G>T
  • NM_014363.6:c.4606G>TMANE SELECT
  • NP_001264984.1:p.Val1389Leu
  • NP_055178.3:p.Val1536Leu
  • NC_000013.10:g.23913409C>A
  • NM_014363.4:c.4606G>T
Protein change:
V1389L
Links:
dbSNP: rs764832688
NCBI 1000 Genomes Browser:
rs764832688
Molecular consequence:
  • NM_001278055.2:c.4165G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.4606G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000577232GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 6, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000577232.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The V1536L variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1536L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V1536L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret V1536L as a variant of uncertain significance.

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

Last Updated: Feb 27, 2021

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