ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.301T>C (p.Cys101Arg)

dbSNP: rs886044095
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000281998 SCV000343428 uncertain significance not provided 2016-07-05 criteria provided, single submitter clinical testing
Invitae RCV001064796 SCV001229716 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 101 of the FKTN protein (p.Cys101Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of FKTN-related conditions (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 289134). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001064796 SCV002078758 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-18 no assertion criteria provided clinical testing

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