ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.5006T>C (p.Ile1669Thr)

dbSNP: rs397517955
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041625 SCV000065321 uncertain significance not specified 2012-10-03 criteria provided, single submitter clinical testing The Ile1670Thr variant in SCN5A has not been reported in the literature nor prev iously identified by our laboratory. The affected amino acid is highly conserved in evolution, suggesting that a change at this position would impact the protei n. Other computational analyses (biochemical amino acid properties, AlignGVGD, P olyPhen2, and SIFT) also support a disease causing role, though this information is not predictive enough to determine pathogenicity. Additional information is needed to fully assess the clinical significance of the Ile1670Thr variant.

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