ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr)

gnomAD frequency: 0.00006  dbSNP: rs779342040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772792 SCV001993425 uncertain significance not provided 2021-02-08 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
Fulgent Genetics, Fulgent Genetics RCV002477947 SCV002783737 uncertain significance Polycystic kidney disease, adult type 2022-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540328 SCV003754760 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.6403G>A (p.A2135T) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a G to A substitution at nucleotide position 6403, causing the alanine (A) at amino acid position 2135 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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