ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.905A>G (p.Glu302Gly)

gnomAD frequency: 0.00002  dbSNP: rs763371307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589967 SCV000698167 uncertain significance not provided 2016-04-15 criteria provided, single submitter clinical testing Variant summary: Variant affects a conserved nucleotide and results in a replacement of a medium size and acidic Glutamic acid (E) with a small size and hydrophobic Glycine (G). 4/4 in silico tools predict the variant to have a disease causing impact (SNPs&GO was not considered because of the low reliability index). Variant was found in the large and broad cohorts of the ExAC project at an allele frequency of 0.00083% which does not exceed the maximal expected allele frequency of a disease causing SNTA1 variant (0.001%). To our knowledge, the variant was not reported in affected patients and in vitro/vivo studies assessing the functional impact of the variant were not published either at the time of scoring. Due to lack of clinical data and functional studies, the variant was classified as a variant of uncertain significance until more information becomes available
Invitae RCV001233106 SCV001405687 uncertain significance Long QT syndrome 2022-08-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 496196). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This variant is present in population databases (rs763371307, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 302 of the SNTA1 protein (p.Glu302Gly).

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