ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) (rs200817435)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175172 SCV000226611 uncertain significance not provided 2015-05-28 criteria provided, single submitter clinical testing
Invitae RCV000540284 SCV000649317 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 1106 of the SCN9A protein (p.Val1106Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs200817435, ExAC 0.04%). This variant has been observed in individuals affected with Rolandic epilepsy (PMID: 29358611). ClinVar contains an entry for this variant (Variation ID: 194737). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198858 SCV001369853 uncertain significance Pes cavus; Distal sensory loss of all modalities; Distal lower limb amyotrophy; Progressive distal muscle weakness 2020-03-31 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,BP4. This variant was detected in heterozygous state.
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655985 SCV000588261 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15

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