ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val)

gnomAD frequency: 0.00001  dbSNP: rs550296441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489375 SCV000577189 uncertain significance not provided 2017-04-07 criteria provided, single submitter clinical testing The A7376V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A7376V variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, missense variants in nearby residues have not been reported in the Human Gene Mutation Database in association with nemaline myopathy (Stenson et al., 2014). However, this substitution occurs at a position that is conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
Labcorp Genetics (formerly Invitae), Labcorp RCV001835827 SCV004301764 likely benign Nemaline myopathy 2 2023-10-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835827 SCV002084048 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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