ClinVar Miner

Submissions for variant NM_006514.3(SCN10A):c.4655C>T (p.Ala1552Val) (rs756133876)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765743 SCV000897111 uncertain significance Episodic pain syndrome, familial, 2 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000233013 SCV000289563 uncertain significance Brugada syndrome 2018-09-04 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1552 of the SCN10A protein (p.Ala1552Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs756133876, ExAC 0.02%). This variant has not been reported in the literature in individuals with SCN10A-related disease. ClinVar contains an entry for this variant (Variation ID: 240677). 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 valine 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, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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