ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn)

gnomAD frequency: 0.00001  dbSNP: rs1157004659
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315154 SCV001505712 uncertain significance X-linked myopathy with postural muscle atrophy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 144 of the FHL1 protein (p.Lys144Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. 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 disruptive. 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 RCV002486236 SCV002784582 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 2021-09-30 criteria provided, single submitter clinical testing

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