ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys)

gnomAD frequency: 0.00001  dbSNP: rs762126486
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761497 SCV002000964 uncertain significance not provided 2021-02-25 criteria provided, single submitter clinical testing Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868559 SCV002140077 uncertain significance X-linked myopathy with postural muscle atrophy 2024-08-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 85 of the FHL1 protein (p.Asn85Lys). This variant is present in population databases (rs762126486, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1312609). 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 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.
Ambry Genetics RCV002440858 SCV002745193 uncertain significance Cardiovascular phenotype 2020-12-11 criteria provided, single submitter clinical testing The p.N85K variant (also known as c.255C>G), located in coding exon 2 of the FHL1 gene, results from a C to G substitution at nucleotide position 255. The asparagine at codon 85 is replaced by lysine, an amino acid with similar properties. Based on data from gnomAD, the G allele has an overall frequency of 0.0005% (1/182982) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.02213% (1/4519) of Other alleles. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002477977 SCV002783342 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 2022-02-08 criteria provided, single submitter clinical testing

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