Submissions for variant NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=)

gnomAD frequency: 0.00013  dbSNP: rs201062811

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000361726	SCV000390303	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000873507	SCV001015510	benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000361726	SCV002055393	likely benign	Agenesis of the corpus callosum with peripheral neuropathy	2021-07-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429267	SCV002740252	likely benign	Inborn genetic diseases	2019-05-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000873507	SCV005041488	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	SLC12A6: BP4, BP7
Natera, Inc.	RCV000361726	SCV001454668	uncertain significance	Agenesis of the corpus callosum with peripheral neuropathy	2020-04-18	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920322	SCV004738448	likely benign	SLC12A6-related disorder	2024-01-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).