ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.482+10T>G

gnomAD frequency: 0.00003  dbSNP: rs762598150
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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 RCV005208851 SCV001681481 likely benign not provided 2023-09-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235320 SCV003934256 likely benign not specified 2025-01-09 criteria provided, single submitter clinical testing Variant summary: SCN5A c.482+10T>G alters a 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 8.4e-06 in 236764 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.482+10T>G in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 532156). Based on the evidence outlined above, the variant was classified as likely benign.

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