ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.497-5A>G

gnomAD frequency: 0.00001  dbSNP: rs202178576
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002334646 SCV002644290 uncertain significance Cardiovascular phenotype 2022-08-26 criteria provided, single submitter clinical testing The c.497-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 3 in the SNTA1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice acceptor site. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics RCV002496028 SCV002784098 uncertain significance Long QT syndrome 12 2021-08-24 criteria provided, single submitter clinical testing
Invitae RCV002538638 SCV003272411 uncertain significance Long QT syndrome 2022-11-04 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the SNTA1 gene. It does not directly change the encoded amino acid sequence of the SNTA1 protein. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1284709). This variant has been observed in individual(s) with SNTA1-related conditions (PMID: 30847666). This variant is present in population databases (rs202178576, gnomAD 0.004%).
Clinical Genetics, Academic Medical Center RCV001700555 SCV001917650 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700555 SCV001928859 uncertain significance not provided no assertion criteria provided clinical testing

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