ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) (rs35445653)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204043 SCV000260375 benign Autosomal recessive polycystic kidney disease 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224330 SCV000281399 benign not provided 2015-09-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000242191 SCV000315854 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000204043 SCV000464040 likely benign Autosomal recessive polycystic kidney disease 2017-04-27 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Integrated Genetics/Laboratory Corporation of America RCV000224330 SCV000699887 benign not provided 2016-08-09 criteria provided, single submitter clinical testing Variant summary: The PKHD1 c.9577G>A (p.Val3193Ile) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant. This variant was found in 720/121508 control chromosomes (including 12 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0612736 (637/10396). This frequency is about 9 times the estimated maximal expected allele frequency of a pathogenic PKHD1 variant (0.0070711). As this variant exceeds allele frequency of 5% in African population, it can be regarded a common benign polymorphism found in the populations of African origin. It has also been published as a polymorphism in literature from in a ARPKD patient/normal controls (Sharp_2005). In addition, multiple clinical diagnostic laboratories have classified this variant as benign. Taken together, this variant is classified as Benign.

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