ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4720-18C>T

gnomAD frequency: 0.00071  dbSNP: rs79402065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441969 SCV000714008 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062164 SCV002400844 benign Nemaline myopathy 2 2025-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000613883 SCV002819899 benign not specified 2023-10-11 criteria provided, single submitter clinical testing Variant summary: NEB c.4720-18C>T alters a non-conserved nucleotide located at a position not widely known to affect splicing. 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 0.00067 in 243524 control chromosomes (gnomAD). To our knowledge, no occurrence of c.4720-18C>T in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.

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