ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro)

gnomAD frequency: 0.00002  dbSNP: rs1060503516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464089 SCV000553237 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001290671 SCV001478799 uncertain significance not specified 2021-01-22 criteria provided, single submitter clinical testing Variant summary: CHRNA4 c.35T>C (p.Leu12Pro) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 150656 control chromosomes (gnomAD v3.1). 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.35T>C in individuals affected with Epilepsy, Nocturnal Frontal Lobe, Type 1 and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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