ClinVar Miner

Submissions for variant NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=)

gnomAD frequency: 0.00011  dbSNP: rs531290475
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604002 SCV000715126 likely benign not specified 2017-11-20 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.
Invitae RCV000923430 SCV001068907 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001144865 SCV001305483 uncertain significance Sideroblastic anemia 2 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.
CeGaT Center for Human Genetics Tuebingen RCV000923430 SCV004154251 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing SLC25A38: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004543412 SCV004762166 likely benign SLC25A38-related disorder 2019-10-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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