ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)

gnomAD frequency: 0.00010  dbSNP: rs199848479
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000260059 SCV000434152 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.
GeneDx RCV001705507 SCV000528626 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314063 SCV000738433 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-12-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000260059 SCV000744121 likely benign Arterial tortuosity syndrome 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000260059 SCV001004060 likely benign Arterial tortuosity syndrome 2024-01-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330648 SCV004039011 likely benign not specified 2023-08-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932354 SCV004755827 likely benign SLC2A10-related disorder 2019-05-29 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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000260059 SCV000745577 likely benign Arterial tortuosity syndrome 2016-07-11 no assertion criteria provided clinical testing

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