ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.305del (p.Pro102fs)

dbSNP: rs765409185
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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 RCV001897488 SCV002149202 pathogenic EAST syndrome 2024-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro102Argfs*96) in the KCNJ10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 278 amino acid(s) of the KCNJ10 protein. 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 variant has not been reported in the literature in individuals affected with KCNJ10-related conditions. ClinVar contains an entry for this variant (Variation ID: 1382196). This variant disrupts a region of the KCNJ10 protein in which other variant(s) (p.Arg199*) have been determined to be pathogenic (PMID: 19289823, 20678478, 20807765, 21088294, 21849804, 23924083). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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