ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)

gnomAD frequency: 0.00002  dbSNP: rs771180054
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245286 SCV000320232 likely benign Cardiovascular phenotype 2022-08-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Phosphorus, Inc. RCV000578008 SCV000679884 uncertain significance Becker muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578061 SCV000679885 uncertain significance Dilated cardiomyopathy 3B 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577950 SCV000679886 uncertain significance Duchenne muscular dystrophy 2017-08-01 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578006 SCV000679887 uncertain significance Long QT syndrome 12 2017-08-01 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270098 SCV001448916 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing
Invitae RCV001859463 SCV002186740 uncertain significance Long QT syndrome 2022-12-18 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SNTA1 protein function. ClinVar contains an entry for this variant (Variation ID: 264348). This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This variant is present in population databases (rs771180054, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 207 of the SNTA1 protein (p.Arg207Gln).
Fulgent Genetics, Fulgent Genetics RCV000578006 SCV002786172 uncertain significance Long QT syndrome 12 2021-10-08 criteria provided, single submitter clinical testing

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