ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.570G>T (p.Ala190=) (rs541702320)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242568 SCV000303538 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001079761 SCV000658975 benign Autosomal dominant polycystic kidney disease 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712684 SCV000843203 benign not provided 2017-12-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000712684 SCV000884377 likely benign not provided 2017-09-14 criteria provided, single submitter clinical testing The PKD2 c.570G>T; p.Ala190Ala variant (rs541702320) has not been reported in the medical literature, but is listed as likely neutral in the Mayo ADPKD database (see link). It is reported in ClinVar (Variation ID: 255795) and observed in the African population at an overall frequency of 2% (232/11682 alleles) in the Genome Aggregation Database. This is a synonymous variant in a nucleotide that is weakly conserved, and computational algorithms (Alamut v.2.11) predict no impact on splicing. Based on available information, this variant is considered likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001155350 SCV001316774 benign Polycystic kidney disease 2 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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