ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser)

gnomAD frequency: 0.00034  dbSNP: rs199945338
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346835 SCV000390314 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV001508751 SCV001715097 uncertain significance not provided 2022-03-16 criteria provided, single submitter clinical testing
GeneDx RCV001508751 SCV001766814 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000346835 SCV002055418 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2021-07-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001508751 SCV002389136 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000346835 SCV001467318 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2020-04-18 no assertion criteria provided clinical testing

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