ClinVar Miner

Submissions for variant NM_006514.3(SCN10A):c.410C>T (p.Thr137Met) (rs148663098)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533330 SCV000637023 uncertain significance Brugada syndrome 2017-06-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 137 of the SCN10A protein (p.Thr137Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs148663098, ExAC 0.005%). This variant has been reported in an individual affected with Brugada syndrome (PMID: 24998131). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on SCN10A function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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