ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)

dbSNP: rs776210036
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035507 SCV001198836 pathogenic not provided 2019-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC12A3 are known to be pathogenic (PMID: 20848653, 22009145, 25841442). This variant has not been reported in the literature in individuals with SLC12A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr438*) in the SLC12A3 gene. It is expected to result in an absent or disrupted protein product.
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328171 SCV001449430 pathogenic Familial hypokalemia-hypomagnesemia; Bartter syndrome 2018-05-03 no assertion criteria provided clinical testing This patient is heterozygous for the c.1314C>G variant in the SLC12A3 gene. This variant creates a premature stop codon (p.Tyr438*) and may result in a null allele due to nonsense-mediated mRNA decay. To our knowledge, this variant has not been previously reported to be a disease causing variant and it has not been reported in the ExAC allele frequency database (http://exac.broadinstitute.org). According to ACMG guidelines, this variant is considered to be pathogenic.

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