ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser)

gnomAD frequency: 0.00002  dbSNP: rs886043917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000343087 SCV000342616 uncertain significance not provided 2016-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001202211 SCV001373316 uncertain significance X-linked myopathy with postural muscle atrophy 2022-09-03 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 38 of the FHL1 protein (p.Asn38Ser). This variant is present in population databases (no rsID available, gnomAD 0.001%). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 27532257). ClinVar contains an entry for this variant (Variation ID: 288500). 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.

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