ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1015del (p.Arg339fs)

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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 RCV002335293 SCV002640018 uncertain significance Cardiovascular phenotype 2022-01-12 criteria provided, single submitter clinical testing The c.1015delC variant, located in coding exon 5 of the SNTA1 gene, results from a deletion of one nucleotide at nucleotide position 1015, causing a translational frameshift with a predicted alternate stop codon (p.R339Vfs*148). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of SNTA1 has not been clearly established as a mechanism of disease, and the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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