ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn)

gnomAD frequency: 0.00003  dbSNP: rs773329559
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996166 SCV001150734 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479173 SCV002787805 uncertain significance Polycystic kidney disease, adult type 2021-12-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323778 SCV004028831 uncertain significance not specified 2023-07-14 criteria provided, single submitter clinical testing Variant summary: PKD1 c.2728G>A (p.Asp910Asn) results in a conservative amino acid change located in the PKD domain (IPR000601) and the cation channel domain (IPR006228) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 248432 control chromosomes (i.e., 1 heterozygote; gnomAD v2.1, Exomes dataset). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2728G>A in individuals affected with Polycystic Kidney Disease 1 and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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