ClinVar Miner

Submissions for variant NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser)

gnomAD frequency: 0.00001  dbSNP: rs774919566
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381294 SCV000339508 uncertain significance not provided 2016-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001323432 SCV001514344 uncertain significance X-linked myopathy with postural muscle atrophy 2023-05-25 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 286178). This missense change has been observed in individual(s) with clinical features of FHL1-related conditions (PMID: 21520333). This variant is present in population databases (rs774919566, gnomAD 0.001%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 85 of the FHL1 protein (p.Asn85Ser).
Fulgent Genetics, Fulgent Genetics RCV002494854 SCV002782844 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 2021-09-23 criteria provided, single submitter clinical testing

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