ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.644G>A (p.Arg215Gln) (rs779933527)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001267837 SCV001446311 uncertain significance Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease; Waardenburg syndrome type 2E 2020-10-01 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 3 of the SOX10 gene that results in the amino acid substitution of Glutamine for Arginine at codon 215 was detected. The observed variant c.644G>A (p.Arg215Gln) has not been reported in the 1000 genomes and has a minor allele frequency of 0.007% in the gnomAD database. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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