ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002351478 SCV002645789 uncertain significance Cardiovascular phenotype 2020-10-14 criteria provided, single submitter clinical testing The p.A170V variant (also known as c.509C>T), located in coding exon 4 of the FKTN gene, results from a C to T substitution at nucleotide position 509. The alanine at codon 170 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102688 SCV003480604 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-05-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 170 of the FKTN protein (p.Ala170Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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.

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