ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr)

gnomAD frequency: 0.00011  dbSNP: rs138242579
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082552 SCV000114594 uncertain significance not provided 2018-08-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001158630 SCV001320280 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.
Invitae RCV001158630 SCV001710198 likely benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578915 SCV001806274 uncertain significance Polycystic kidney disease 4 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002513852 SCV003650982 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.4304G>C (p.S1435T) alteration is located in exon 32 (coding exon 31) of the PKHD1 gene. This alteration results from a G to C substitution at nucleotide position 4304, causing the serine (S) at amino acid position 1435 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000082552 SCV001549078 uncertain significance not provided no assertion criteria provided clinical testing

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