ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val)

gnomAD frequency: 0.00007  dbSNP: rs746910149
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518272 SCV000614508 benign not specified 2020-10-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092714 SCV001249350 likely benign not provided 2020-01-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262469 SCV001440363 likely benign Polycystic kidney disease, adult type 2019-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001262469 SCV001474392 uncertain significance Polycystic kidney disease, adult type 2019-08-29 criteria provided, single submitter clinical testing The PKD1 c.5453C>T; p.Ala1818Val variant (rs746910149), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 447988). This variant is found in the Ashkenazi Jewish population with an allele frequency of 0.17% (17/9844 alleles) in the Genome Aggregation Database. The alanine at codon 1818 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the p.Ala1818Val variant is uncertain at this time.
Ambry Genetics RCV003243164 SCV003952717 uncertain significance Inborn genetic diseases 2023-05-23 criteria provided, single submitter clinical testing The c.5453C>T (p.A1818V) alteration is located in exon 15 (coding exon 15) of the PKD1 gene. This alteration results from a C to T substitution at nucleotide position 5453, causing the alanine (A) at amino acid position 1818 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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