ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) (rs144095826)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198021 SCV000250699 likely benign not specified 2016-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000354340 SCV000434151 uncertain significance Arterial tortuosity syndrome 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000198021 SCV000605163 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
Invitae RCV000354340 SCV000644164 likely benign Arterial tortuosity syndrome 2020-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618750 SCV000739652 uncertain significance Cardiovascular phenotype 2020-01-03 criteria provided, single submitter clinical testing The p.A106G variant (also known as c.317C>G), located in coding exon 2 of the SLC2A10 gene, results from a C to G substitution at nucleotide position 317. The alanine at codon 106 is replaced by glycine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species, and glycine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171026 SCV001333695 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-02-01 criteria provided, single submitter clinical testing

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