ClinVar Miner

Submissions for variant NM_001079802.2(FKTN):c.526T>G (p.Phe176Val)

gnomAD frequency: 0.00001  dbSNP: rs746813994
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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) RCV000314952 SCV000343079 uncertain significance not provided 2016-06-20 criteria provided, single submitter clinical testing
Invitae RCV001850432 SCV002210534 uncertain significance Walker-Warburg congenital muscular dystrophy 2022-04-28 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 176 of the FKTN protein (p.Phe176Val). This variant is present in population databases (rs746813994, gnomAD 0.02%). 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: 288846). 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.
Fulgent Genetics, Fulgent Genetics RCV002494881 SCV002779112 uncertain significance Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 2021-09-13 criteria provided, single submitter clinical testing

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