ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.497-3C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004508475 SCV005020301 uncertain significance Cardiovascular phenotype 2023-10-17 criteria provided, single submitter clinical testing The c.497-3C>T intronic variant results from a C to T substitution 3 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 not have any significant effect on splicing. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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