ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3036C>T (p.Thr1012=)

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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 RCV005358135 SCV005916304 likely benign Polycystic kidney disease, adult type 2024-10-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739233 SCV005344875 uncertain significance PKD1-related disorder 2024-06-11 no assertion criteria provided clinical testing The PKD1 c.3036C>T variant is not predicted to result in an amino acid change (p.=). This synonymous alteration is predicted to strengthen a cryptic splice site; however, no functional studies have been done to assess whether this change would alter splicing (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of East Asian 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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