ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.6T>G (p.Ser2Arg)

gnomAD frequency: 0.00001  dbSNP: rs1350049256
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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 RCV002013061 SCV002291057 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-09-20 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with FKTN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 2 of the FKTN protein (p.Ser2Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.
Ambry Genetics RCV004045971 SCV005037356 uncertain significance Cardiovascular phenotype 2024-03-13 criteria provided, single submitter clinical testing The p.S2R variant (also known as c.6T>G), located in coding exon 1 of the FKTN gene, results from a T to G substitution at nucleotide position 6. The serine at codon 2 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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