ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.37G>A (p.Val13Met)

gnomAD frequency: 0.00037  dbSNP: rs139079635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002072596 SCV002325680 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552365 SCV003642119 uncertain significance Inborn genetic diseases 2021-07-13 criteria provided, single submitter clinical testing The c.37G>A (p.V13M) alteration is located in exon 1 (coding exon 1) of the KCNJ11 gene. This alteration results from a G to A substitution at nucleotide position 37, causing the valine (V) at amino acid position 13 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235670 SCV003934613 uncertain significance not specified 2023-05-16 criteria provided, single submitter clinical testing Variant summary: KCNJ11 c.37G>A (p.Val13Met) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00033 in 281036 control chromosomes in the gnomAD database, including 1 homozygote. This frequency is not significantly higher than estimated for a pathogenic variant in KCNJ11 causing Congenital Hyperinsulinism (0.00033 vs 0.0011), allowing no conclusion about variant significance. c.37G>A has been reported in the literature in individuals affected with obesity (Foucan_2018). This report does not provide unequivocal conclusions about association of the variant with Congenital Hyperinsulinism. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 32041611, 29216354, 23275527). Two ClinVar submitters have assessed the variant since 2014: one classified the variant as uncertain significance, and one as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.

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