ClinVar Miner

Submissions for variant NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln)

gnomAD frequency: 0.00006  dbSNP: rs372284984
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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 RCV000530441 SCV000416853 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.
GeneDx RCV001718698 SCV000621755 likely benign not provided 2018-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530441 SCV000640681 benign Nemaline myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523086 SCV003698779 uncertain significance Inborn genetic diseases 2021-11-12 criteria provided, single submitter clinical testing The c.16238G>A (p.R5413Q) alteration is located in exon 116 (coding exon 114) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 16238, causing the arginine (R) at amino acid position 5413 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001718698 SCV003812810 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000530441 SCV001460600 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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