ClinVar Miner

Submissions for variant NM_003098.3(SNTA1):c.1324C>T (p.Arg442Ter)

gnomAD frequency: 0.00002  dbSNP: rs375603980
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171107 SCV000223672 uncertain significance not provided 2012-08-10 criteria provided, single submitter clinical testing The Arg442Stop variant in the SNTA1 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. As a nonsense change, Arg442Stop is predicted to cause loss of normal protein function either due to production of an abnormal, prematurely truncated protein, or by absence of protein product due to nonsense mediated mRNA decay. However, no nonsense or other protein truncating mutations have been reported in the SNTA1 gene to our knowledge. The NHLBI ESP Exome Variant Server reports Arg442Stop was observed in approximately 1/8599 alleles from individuals of European ancestry. Data from ethnically-matched control individuals were not available to assess for a population-specific benign variant.In summary, with the clinical and molecular information available at this time, we cannot determine if the Arg442Stop variant in the SNTA1 gene is a disease-causing mutation or a benign polymorphism. A pathogenic role for this variant would be supported if it has occurred de novo in an individual or co-segregates with a LQTS phenotype in a family. The variant is found in LQT panel(s).

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