ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1268A>G (p.Tyr423Cys)

gnomAD frequency: 0.00001  dbSNP: rs938689811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992587 SCV002223492 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 423 of the FKTN protein (p.Tyr423Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FKTN-related conditions. 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.
Ambry Genetics RCV002370590 SCV002685860 uncertain significance Cardiovascular phenotype 2021-06-18 criteria provided, single submitter clinical testing The p.Y423C variant (also known as c.1268A>G), located in coding exon 9 of the FKTN gene, results from an A to G substitution at nucleotide position 1268. The tyrosine at codon 423 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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