ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp)

dbSNP: rs2132791236
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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 RCV001942468 SCV002136553 uncertain significance Walker-Warburg congenital muscular dystrophy 2021-11-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 132 of the FKTN protein (p.Asn132Asp). This variant is not present in population databases (gnomAD 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002370396 SCV002624422 uncertain significance Cardiovascular phenotype 2021-04-11 criteria provided, single submitter clinical testing The p.N132D variant (also known as c.394A>G), located in coding exon 4 of the FKTN gene, results from an A to G substitution at nucleotide position 394. The asparagine at codon 132 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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