ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His)

gnomAD frequency: 0.00011  dbSNP: rs371329493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596248 SCV000709634 uncertain significance not provided 2017-06-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001159983 SCV001321741 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001159983 SCV002184573 likely benign Autosomal recessive polycystic kidney disease 2024-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532684 SCV003651832 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.10910G>A (p.R3637H) alteration is located in exon 61 (coding exon 60) of the PKHD1 gene. This alteration results from a G to A substitution at nucleotide position 10910, causing the arginine (R) at amino acid position 3637 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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