ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1118G>A (p.Arg373His)

gnomAD frequency: 0.00002  dbSNP: rs754648214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348902 SCV000433495 uncertain significance Long QT syndrome 12 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000387494 SCV000433496 uncertain significance Congenital long QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000348902 SCV002800145 uncertain significance Long QT syndrome 12 2021-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298397 SCV003988574 uncertain significance Cardiovascular phenotype 2023-05-18 criteria provided, single submitter clinical testing The p.R373H variant (also known as c.1118G>A), located in coding exon 6 of the SNTA1 gene, results from a G to A substitution at nucleotide position 1118. The arginine at codon 373 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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