ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His)

gnomAD frequency: 0.00001  dbSNP: rs752191412
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000799124 SCV000938773 uncertain significance Walker-Warburg congenital muscular dystrophy 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 392 of the FKTN protein (p.Tyr392His). This variant is present in population databases (rs752191412, gnomAD 0.0009%). 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: 645102). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002332617 SCV002628008 uncertain significance Cardiovascular phenotype 2019-03-27 criteria provided, single submitter clinical testing The p.Y392H variant (also known as c.1174T>C), located in coding exon 9 of the FKTN gene, results from a T to C substitution at nucleotide position 1174. The tyrosine at codon 392 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available 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.
CeGaT Center for Human Genetics Tuebingen RCV003456432 SCV004184812 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing FKTN: PM2, PP3
Mayo Clinic Laboratories, Mayo Clinic RCV003456432 SCV004225073 uncertain significance not provided 2023-04-20 criteria provided, single submitter clinical testing PP3, PM2_supporting
Natera, Inc. RCV000799124 SCV002081971 uncertain significance Walker-Warburg congenital muscular dystrophy 2020-12-31 no assertion criteria provided clinical testing

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