ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val)

gnomAD frequency: 0.00054  dbSNP: rs202209668
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292919 SCV000332273 uncertain significance not provided 2015-06-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000535305 SCV000416859 uncertain significance Nemaline myopathy 2 2018-01-13 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 RCV000535305 SCV000640670 benign Nemaline myopathy 2 2024-01-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000535305 SCV001522211 uncertain significance Nemaline myopathy 2 2019-02-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002502095 SCV002812817 uncertain significance Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 2021-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518819 SCV003564478 uncertain significance Inborn genetic diseases 2021-08-16 criteria provided, single submitter clinical testing The c.15551C>T (p.A5184V) alteration is located in exon 109 (coding exon 107) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 15551, causing the alanine (A) at amino acid position 5184 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000292919 SCV003812811 uncertain significance not provided 2022-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000292919 SCV003927517 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000535305 SCV001463303 uncertain significance Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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