ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.10583G>A (p.Arg3528His)

gnomAD frequency: 0.00015  dbSNP: rs199584268
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000822266 SCV000416944 uncertain significance Nemaline myopathy 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000822266 SCV000963059 benign Nemaline myopathy 2 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001753794 SCV001988394 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing Observed with a second variant on the opposite allele (in trans) in a proband with prenatal arthrogryposis, plagiocephaly, and club feet and postnatal generalized muscle weakness and mildly elevated creatine phosphokinase (CPK); the authors interpreted both variants as being of uncertain significance (Aarabi et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29392406, 32403337)
Fulgent Genetics, Fulgent Genetics RCV002480174 SCV002782695 uncertain significance Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-07-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001753794 SCV003810333 uncertain significance not provided 2023-03-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000822266 SCV001459411 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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