ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln)

gnomAD frequency: 0.00151  dbSNP: rs144060377
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000724946 SCV000329193 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga) RCV000724946 SCV000332634 uncertain significance not provided 2015-07-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000372057 SCV000407147 uncertain significance Desbuquois dysplasia 1 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000724946 SCV002048564 uncertain significance not provided 2020-12-11 criteria provided, single submitter clinical testing The CANT1 c.56G>A; p.Arg19Gln variant (rs144060377), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 279729). This variant is found in the non-Finnish European population with an overall allele frequency of 0.22% (233/106792 alleles, including 2 homozygotes) in the Genome Aggregation Database. The arginine at codon 19 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.559). Although the population frequency of the p.Arg19Gln variant does not suggest an association with disease, given the lack of clinical and functional data, its significance is uncertain at this time.
Invitae RCV000724946 SCV002449898 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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