ClinVar Miner

Submissions for variant NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu)

gnomAD frequency: 0.00136  dbSNP: rs121918186
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001150740 SCV001311828 uncertain significance Renal hypodysplasia/aplasia 1 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Revvity Omics, Revvity RCV003488317 SCV004237509 uncertain significance not provided 2019-12-23 criteria provided, single submitter clinical testing
OMIM RCV000000921 SCV000021071 uncertain significance Congenital anomalies of kidney and urinary tract 1 2005-07-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003415610 SCV004113653 uncertain significance UPK3A-related disorder 2023-12-19 no assertion criteria provided clinical testing The UPK3A c.818C>T variant is predicted to result in the amino acid substitution p.Pro273Leu. This variant was reported to occur de novo in two individuals with renal dysplasia and vesicoureteral reflux (Jenkins et al 2005. PubMed ID: 15888565; Dopazo J et al 2016. PubMed ID: 26764160). This variant was also reported as a variant of uncertain significance in a patient with multicystic kidney dysplasia (Nicolaou N et al 2016. PubMed ID: 26489027). This variant is reported in 0.21% of alleles in individuals of European (Non-Finnish) descent in gnomAD which seems too common to be a primary cause of disease. Although we suspect this variant is benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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