ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7741G>A (p.Ala2581Thr)

gnomAD frequency: 0.00003  dbSNP: rs773620699
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004498898 SCV005005294 likely benign Inborn genetic diseases 2024-01-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV004767558 SCV005378099 uncertain significance not provided 2023-10-31 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005407310 SCV006072599 uncertain significance not specified 2025-04-08 criteria provided, single submitter clinical testing Variant summary: PKD1 c.7741G>A (p.Ala2581Thr) results in a non-conservative amino acid change located in the REJ domain (IPR014010) of the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.7e-05 in 237948 control chromosomes. 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.7741G>A in individuals affected with PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 3213516). Based on the evidence outlined above, the variant was classified as uncertain significance.

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