ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.499G>A (p.Val167Met)

gnomAD frequency: 0.00001  dbSNP: rs1332573754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661929 SCV000784254 uncertain significance X-linked myopathy with postural muscle atrophy 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000661929 SCV001565753 uncertain significance X-linked myopathy with postural muscle atrophy 2020-01-23 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 548468). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 151 of the FHL1 protein (p.Val151Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine.

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