ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1948G>C (p.Ala650Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005358136 SCV005914030 uncertain significance Polycystic kidney disease, adult type 2018-03-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739777 SCV005346319 uncertain significance PKD1-related disorder 2024-04-03 no assertion criteria provided clinical testing The PKD1 c.1948G>C variant is predicted to result in the amino acid substitution p.Ala650Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0075% of alleles in individuals of Latino descent in gnomAD. 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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