ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu)

gnomAD frequency: 0.00024  dbSNP: rs202191938
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081125 SCV000113033 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000543899 SCV000640725 benign Nemaline myopathy 2 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000081125 SCV001989942 uncertain significance not provided 2024-06-14 criteria provided, single submitter clinical testing 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: Olimpia_2023)
Natera, Inc. RCV000543899 SCV001456461 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004549518 SCV004793953 uncertain significance NEB-related disorder 2023-11-10 no assertion criteria provided clinical testing The NEB c.23753C>T variant is predicted to result in the amino acid substitution p.Ser7918Leu. This variant has been reported with uncertain significance in the heterozygous state, along with variants in other genes, in an individual with myofibrillar myopathy (Case 1, Carbunar O, M Saporta, and S Gultekin. 2023. doi:10.17161/rrnmf.v4i2.18512). This variant is reported in 0.088% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-152362681-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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