ClinVar Miner

Submissions for variant NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs)

dbSNP: rs764247288
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992999 SCV001145667 likely pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. The best available variant frequency is uninformative because it is below the disease allele frequency.
Invitae RCV000992999 SCV002237116 pathogenic not provided 2023-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 805466). This variant has not been reported in the literature in individuals affected with SLC12A1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Ile957Asnfs*11) in the SLC12A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC12A1 are known to be pathogenic (PMID: 8640224, 9585600, 19096086).

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