ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.138C>A (p.Ser46Arg)

gnomAD frequency: 0.00001  dbSNP: rs1826853440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245041 SCV001418303 uncertain significance Walker-Warburg congenital muscular dystrophy 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 46 of the FKTN protein (p.Ser46Arg). 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: 969648). 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 with a negative predictive value of 80%. 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 RCV004619583 SCV005118172 uncertain significance Cardiovascular phenotype 2024-06-10 criteria provided, single submitter clinical testing The c.138C>A (p.S46R) alteration is located in exon 4 (coding exon 2) of the FKTN gene. This alteration results from a C to A substitution at nucleotide position 138, causing the serine (S) at amino acid position 46 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001245041 SCV002078742 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-07-06 no assertion criteria provided clinical testing

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