ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.548A>G (p.Lys183Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004996844 SCV005582792 uncertain significance Cardiovascular phenotype 2024-07-02 criteria provided, single submitter clinical testing The c.500A>G (p.K167R) alteration is located in exon 5 (coding exon 3) of the FHL1 gene. This alteration results from a A to G substitution at nucleotide position 500, causing the lysine (K) at amino acid position 167 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005110277 SCV005814932 uncertain significance X-linked myopathy with postural muscle atrophy 2024-09-02 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 167 of the FHL1 protein (p.Lys167Arg). This variant is present in population databases (rs778371222, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. 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. 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.

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