ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser)

gnomAD frequency: 0.00019  dbSNP: rs199903114
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546780 SCV000640765 benign Nemaline myopathy 2 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000546780 SCV001293802 uncertain significance Nemaline myopathy 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002526138 SCV003740047 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.2771A>C (p.Y924S) alteration is located in exon 28 (coding exon 26) of the NEB gene. This alteration results from a A to C substitution at nucleotide position 2771, causing the tyrosine (Y) at amino acid position 924 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003133324 SCV003811549 uncertain significance not provided 2019-11-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003133324 SCV005075145 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing NEB: PM2, BP1
GeneDx RCV003133324 SCV005327020 uncertain significance not provided 2024-03-18 criteria provided, single submitter clinical testing Identified in a patient with adult-onset myopathy along with NEB variant c.21790G>C. The phase of these two variants (cis/trans) is unknown (Poster presentation; Morales et al., 2017); Also reported in one patient in association with endometriosis; however, rurther research is needed to explore a possible link between variants in the NEB gene and this phenotype (PMID: 37626618); 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: 37626618)
Natera, Inc. RCV000546780 SCV002077774 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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