ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5031+4T>C

gnomAD frequency: 0.00041  dbSNP: rs370999716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543568 SCV000640808 likely benign Nemaline myopathy 2 2024-01-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586774 SCV005076785 likely benign not specified 2024-04-10 criteria provided, single submitter clinical testing Variant summary: NEB c.5031+4T>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 7.4e-05 in 1609430 control chromosomes in the gnomAD database, including 1 homozygotes. To our knowledge, no occurrence of c.5031+4T>C in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 465610). Based on the evidence outlined above, the variant was classified as likely benign.
Natera, Inc. RCV000543568 SCV001453498 likely benign Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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