ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.862G>A (p.Val288Met)

gnomAD frequency: 0.00024  dbSNP: rs201553464
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553611 SCV000631348 likely benign Dyskeratosis congenita 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764156 SCV000895153 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000553611 SCV001287883 uncertain significance Dyskeratosis congenita 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 RCV001764545 SCV001997847 uncertain significance not provided 2019-10-03 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
Genome-Nilou Lab RCV000764156 SCV002054477 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000553611 SCV002531321 uncertain significance Dyskeratosis congenita 2021-09-09 criteria provided, single submitter curation

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