ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp)

gnomAD frequency: 0.00019  dbSNP: rs370477960
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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 RCV002143198 SCV002457272 likely benign not provided 2024-03-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282698 SCV002571024 uncertain significance not specified 2022-07-12 criteria provided, single submitter clinical testing Variant summary: SLC12A6 c.1417A>G (p.Asn473Asp) 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 5.2e-05 in 251482 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in SLC12A6 causing Andermann Syndrome (5.2e-05 vs 0.025), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1417A>G in individuals affected with Andermann Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV003081016 SCV003732558 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.1417A>G (p.N473D) alteration is located in exon 10 (coding exon 10) of the SLC12A6 gene. This alteration results from a A to G substitution at nucleotide position 1417, causing the asparagine (N) at amino acid position 473 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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