ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.255C>T (p.Tyr85=)

gnomAD frequency: 0.00004  dbSNP: rs375749306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001419373 SCV001621628 likely benign Nemaline myopathy 2 2024-01-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271651 SCV002555920 likely benign not specified 2022-06-16 criteria provided, single submitter clinical testing Variant summary: NEB c.255C>T alters a conserved nucleotide resulting in a synonymous change. 4/4 computational 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 6.8e-05 in 248750 control chromosomes, predominantly at a frequency of 0.00039 within the South Asian subpopulation in the gnomAD database. This frequency is not higher than expected for a pathogenic variant in NEB causing Nemaline Myopathy 2 (0.00039 vs 0.0035), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.255C>T in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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