ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22268G>A (p.Ser7423Asn)

gnomAD frequency: 0.00001  dbSNP: rs759974940
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478370 SCV000574283 uncertain significance not provided 2017-03-27 criteria provided, single submitter clinical testing The S7458N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S7458N 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. 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.
Natera, Inc. RCV001276757 SCV001463285 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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