ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=)

gnomAD frequency: 0.00072  dbSNP: rs149172580
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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 RCV000972904 SCV001120634 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782616 SCV005395465 uncertain significance not specified 2024-09-18 criteria provided, single submitter clinical testing Variant summary: SLC12A3 c.966G>A (p.Ala322Ala) alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Two predict the variant weakens a 3' acceptor site. Three predict the variant creates a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00017 in 251446 control chromosomes, predominantly at a frequency of 0.0021 within the African or African-American subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in SLC12A3 causing Familial Hypokalemia-Hypomagnesemia, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.966G>A in individuals affected with Familial Hypokalemia-Hypomagnesemia and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 790165). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001274423 SCV001458554 uncertain significance Familial hypokalemia-hypomagnesemia 2020-03-10 no assertion criteria provided clinical testing

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