ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1288C>A (p.Gln430Lys)

gnomAD frequency: 0.00003  dbSNP: rs727504094
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153726 SCV000203284 uncertain significance not provided 2013-12-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160200 SCV001321981 uncertain significance Autosomal recessive polycystic kidney disease 2018-01-13 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.
Fulgent Genetics, Fulgent Genetics RCV002478447 SCV002793469 uncertain significance Polycystic kidney disease 4 2021-10-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000153726 SCV004032683 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing PKHD1: PM2, BP4
Ambry Genetics RCV004019840 SCV005006773 uncertain significance Inborn genetic diseases 2024-01-22 criteria provided, single submitter clinical testing The c.1288C>A (p.Q430K) alteration is located in exon 16 (coding exon 15) of the PKHD1 gene. This alteration results from a C to A substitution at nucleotide position 1288, causing the glutamine (Q) at amino acid position 430 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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