NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 22, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000484989.1

Allele description [Variation Report for NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser)]

NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser)

Genes:
KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_181798.1(KCNQ1):c.1480G>A (p.Gly494Ser)
HGVS:
  • NC_000011.10:g.2847833G>A
  • NG_008935.1:g.407843G>A
  • NM_000218.2:c.1861G>A
  • NM_181798.1:c.1480G>A
  • NP_000209.2:p.Gly621Ser
  • NP_861463.1:p.Gly494Ser
  • LRG_287t1:c.1861G>A
  • LRG_287t2:c.1480G>A
  • LRG_287:g.407843G>A
  • LRG_287p1:p.Gly621Ser
  • LRG_287p2:p.Gly494Ser
  • NC_000011.9:g.2869063G>A
Protein change:
G494S
Links:
dbSNP: rs199472820
NCBI 1000 Genomes Browser:
rs199472820
Molecular consequence:
  • NM_000218.2:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.1480G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000568142GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 22, 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, SCV000568142.3

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

Description

The G621S variant in the KCNQ1 gene has been published in an 11-month-old male with sudden cardiac death during sleeping. However, this individual harbored several cardiogenetic variants, including a TTN variant predicted to be disease-causing (Campuzano et al.,2014). The G621S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. Finally, although G621S is not observed at a significant frequency in large population cohorts, it has been reported as a rare control variant in at least one ostensibly healthy Black individual (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server; Ackerman et al., 2003; Kapa et al., 2009; Giudicessi et al., 2012).

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

Last Updated: Oct 8, 2021

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