ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)

gnomAD frequency: 0.00001  dbSNP: rs773798664
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002288228 SCV002578886 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003097760 SCV003548635 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.9910G>A (p.D3304N) alteration is located in exon 29 (coding exon 29) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 9910, causing the aspartic acid (D) at amino acid position 3304 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV002288228 SCV004229853 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
Fulgent Genetics, Fulgent Genetics RCV005008523 SCV005638599 uncertain significance Polycystic kidney disease, adult type 2024-05-20 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005008523 SCV005912200 uncertain significance Polycystic kidney disease, adult type 2021-11-18 criteria provided, single submitter clinical testing

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