ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser)

dbSNP: rs122458140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562936 SCV001785785 pathogenic not provided 2019-08-27 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect showing reduced myoblast fusion and differentiation (Wilding et al., 2014); In vivo study in mice demonstrated that p.W122S mutation in Fhl1 induces a late-onset mild myopathy with loss of the protein at advanced ages in hemizygous male which is similar to human patients with late-onset muscle weakness (Emmanuele et al., 2015); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; A different missense change at this residue (W122C) has been reported in ClinVar (Landrum et al., 2016); This variant is associated with the following publications: (PMID: 18179901, 19181672, 20874719, 20633900, 24634512, 25274776, 30260394)
OMIM RCV000012303 SCV000032537 pathogenic X-linked scapuloperoneal muscular dystrophy 2015-02-01 no assertion criteria provided literature only

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