ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.710_711del (p.Val237fs)

dbSNP: rs1555863145
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652720 SCV000774591 pathogenic Developmental and epileptic encephalopathy, 34 2018-01-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC12A5 are known to be pathogenic (PMID: 26333769, 27436767). This variant has not been reported in the literature in individuals with SLC12A5-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val237Alafs*54) in the SLC12A5 gene. It is expected to result in an absent or disrupted protein product.

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