Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000552564 | SCV000637374 | likely benign | Familial melanoma | 2024-11-27 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV001109393 | SCV001266727 | likely benign | Melanoma, cutaneous malignant, susceptibility to, 3 | 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
| Ambry Genetics | RCV002341314 | SCV002641011 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-02 | 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. |
| Myriad Genetics, |
RCV001109393 | SCV005406850 | benign | Melanoma, cutaneous malignant, susceptibility to, 3 | 2024-09-25 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004800453 | SCV005423017 | likely benign | not specified | 2024-10-07 | criteria provided, single submitter | clinical testing | Variant summary: CDK4 c.504G>A alters a conserved nucleotide resulting in a synonymous change. The variant allele was found at a frequency of 8e-06 in 251492 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.504G>A in individuals affected with Cutaneous Malignant Melanoma and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 463470). Based on the evidence outlined above, the variant was classified as likely benign. |