ClinVar Miner

Submissions for variant NM_019842.4(KCNQ5):c.1248-3581G>T

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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 RCV002632235 SCV003502787 benign not provided 2023-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002603294 SCV003613807 uncertain significance Inborn genetic diseases 2022-02-03 criteria provided, single submitter clinical testing The c.1295G>T (p.R432L) alteration is located in exon 10 (coding exon 10) of the KCNQ5 gene. This alteration results from a G to T substitution at nucleotide position 1295, causing the arginine (R) at amino acid position 432 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994504 SCV004813802 uncertain significance not specified 2024-02-08 criteria provided, single submitter clinical testing Variant summary: KCNQ5 c.1295G>T (p.Arg432Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.9e-06 in 1454212 control chromosomes (i.e. in 10 carriers) in the gnomAD database v4.0 dataset. To our knowledge, no occurrence of c.1295G>T in individuals affected with Intellectual Disability, Autosomal Dominant 46 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2184435). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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