ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro)

gnomAD frequency: 0.00004  dbSNP: rs773527738
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733072 SCV001983221 uncertain significance not provided 2021-10-05 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
Fulgent Genetics, Fulgent Genetics RCV002496061 SCV002787349 likely benign Polycystic kidney disease, adult type 2024-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247005 SCV003940909 uncertain significance Inborn genetic diseases 2023-04-26 criteria provided, single submitter clinical testing The c.5746G>C (p.A1916P) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to C substitution at nucleotide position 5746, causing the alanine (A) at amino acid position 1916 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004741059 SCV005359161 uncertain significance PKD1-related disorder 2024-05-01 no assertion criteria provided clinical testing The PKD1 c.5746G>C variant is predicted to result in the amino acid substitution p.Ala1916Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0057% 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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