ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)

gnomAD frequency: 0.00002  dbSNP: rs1230410861
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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 RCV000823871 SCV000964742 uncertain significance X-linked myopathy with postural muscle atrophy 2020-09-13 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FHL1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with arginine at codon 4 of the FHL1 protein (p.Lys4Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002501146 SCV002792199 uncertain significance Myopathy, reducing body, X-linked, childhood-onset; Myopathy, reducing body, X-linked, early-onset, severe; X-linked myopathy with postural muscle atrophy; Uruguay Faciocardiomusculoskeletal syndrome; X-linked scapuloperoneal muscular dystrophy 2021-07-19 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145211 SCV003832589 uncertain significance not provided 2020-03-26 criteria provided, single submitter clinical testing

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