ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.448A>G (p.Ile150Val)

dbSNP: rs886044482
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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) RCV000314433 SCV000345117 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001312912 SCV001503386 uncertain significance Walker-Warburg congenital muscular dystrophy 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 150 of the FKTN protein (p.Ile150Val). 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. ClinVar contains an entry for this variant (Variation ID: 290546). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FKTN protein function. 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.
Revvity Omics, Revvity RCV000314433 SCV003832684 uncertain significance not provided 2019-02-22 criteria provided, single submitter clinical testing

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