ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala)

gnomAD frequency: 0.00001  dbSNP: rs777357385
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000813460 SCV000407594 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.
Invitae RCV000813460 SCV000953820 likely benign Dyskeratosis congenita 2023-11-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807217 SCV002055586 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003343781 SCV004060802 uncertain significance Inborn genetic diseases 2023-09-12 criteria provided, single submitter clinical testing The c.3190A>G (p.T1064A) alteration is located in exon 20 (coding exon 20) of the CTC1 gene. This alteration results from a A to G substitution at nucleotide position 3190, causing the threonine (T) at amino acid position 1064 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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