ClinVar Miner

Submissions for variant NM_001365088.1(SLC12A6):c.1094CTT[1] (p.Ser366del)

dbSNP: rs779390859
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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 RCV000341230 SCV000390317 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000522069 SCV000617186 uncertain significance not provided 2024-12-22 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acid(s) in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000522069 SCV003449652 uncertain significance not provided 2024-11-19 criteria provided, single submitter clinical testing This variant, c.1097_1099del, results in the deletion of 1 amino acid(s) of the SLC12A6 protein (p.Ser366del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779390859, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SLC12A6-related conditions. ClinVar contains an entry for this variant (Variation ID: 315617). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000522069 SCV005409861 uncertain significance not provided 2023-11-22 criteria provided, single submitter clinical testing PM4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000522069 SCV005878764 likely benign not provided 2024-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000341230 SCV001454678 uncertain significance Agenesis of the corpus callosum with peripheral neuropathy 2020-04-18 no assertion criteria provided clinical testing

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