Submissions for variant NM_006953.4(UPK3A):c.731C>T (p.Thr244Met)

gnomAD frequency: 0.00013  dbSNP: rs374008042

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000284484	SCV000439090	uncertain significance	Renal hypodysplasia/aplasia 1	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.
PreventionGenetics, part of Exact Sciences	RCV003392215	SCV004120242	uncertain significance	UPK3A-related condition	2023-03-06	criteria provided, single submitter	clinical testing	The UPK3A c.731C>T variant is predicted to result in the amino acid substitution p.Thr244Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.034% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-45691467-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.