ClinVar Miner

Submissions for variant NM_002242.4(KCNJ13):c.827A>C (p.Glu276Ala)

gnomAD frequency: 0.00036  dbSNP: rs374411396
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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 RCV001521269 SCV001730578 benign not provided 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001521269 SCV005325212 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing Identified in the heterozygous state in a patient with retinitis pigmentosa in the literature, although there was no familial segregation data (Sergouniotis et al., 2011); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21763485, 35477418, 36717105)

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