Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085786 | SCV000166200 | likely benign | Familial melanoma | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564591 | SCV000669085 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-17 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589608 | SCV000695319 | benign | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing | Variant summary: The CDK4 c.523-4T>A variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 10/121352 control chromosomes, predominantly observed in the South Asian subpopulation at a frequency of 0.000545 (9/16512). This frequency is about 27 times the estimated maximal expected allele frequency of a pathogenic CDK4 variant (0.00002), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. In addition, a clinical diagnostic laboratory classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |
Sema4, |
RCV000564591 | SCV002534256 | benign | Hereditary cancer-predisposing syndrome | 2021-02-17 | criteria provided, single submitter | curation |