ClinVar Miner

Submissions for variant NM_002250.3(KCNN4):c.1193C>T (p.Thr398Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133804 SCV003811958 uncertain significance Dehydrated hereditary stomatocytosis 2 2021-09-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946444 SCV004757820 uncertain significance KCNN4-related disorder 2023-10-18 no assertion criteria provided clinical testing The KCNN4 c.1193C>T variant is predicted to result in the amino acid substitution p.Thr398Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-44271786-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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