Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226215 | SCV001398520 | benign | Alpha thalassemia-X-linked intellectual disability syndrome | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003479298 | SCV004223643 | likely benign | not specified | 2023-11-10 | criteria provided, single submitter | clinical testing | Variant summary: ATRX c.3158C>A (p.Thr1053Asn) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.2e-05 in 181978 control chromosomes with 1 hemizygote, predominantly at a frequency of 0.00031 within the African or African-American subpopulation in the gnomAD database. To our knowledge, no occurrence of c.3158C>A in individuals affected with ATR-X Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as benign. Based on the evidence outlined above, the variant was classified as likely benign. |