ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys)

gnomAD frequency: 0.00038  dbSNP: rs201419564
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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 RCV000641310 SCV000416821 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 RCV000641310 SCV000762951 benign Nemaline myopathy 2 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001555818 SCV001777288 uncertain significance not provided 2021-06-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 26582918)
Ambry Genetics RCV002521301 SCV003721298 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.18802C>T (p.R6268C) alteration is located in exon 140 (coding exon 138) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 18802, causing the arginine (R) at amino acid position 6268 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001555818 SCV003811600 uncertain significance not provided 2023-08-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000641310 SCV002083991 uncertain significance Nemaline myopathy 2 2020-02-21 no assertion criteria provided clinical testing

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