ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5933A>G (p.Asn1978Ser)

gnomAD frequency: 0.00005  dbSNP: rs373707925
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003152254 SCV003840791 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005356371 SCV005919555 uncertain significance Polycystic kidney disease, adult type 2022-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741462 SCV005366396 uncertain significance PKD1-related disorder 2024-07-30 no assertion criteria provided clinical testing The PKD1 c.5933A>G variant is predicted to result in the amino acid substitution p.Asn1978Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0049% of alleles in individuals of European (Non-Finnish) 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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