Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503816 | SCV000597858 | uncertain significance | not specified | 2017-06-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001434527 | SCV001637336 | likely benign | not provided | 2024-12-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001434527 | SCV001753958 | uncertain significance | not provided | 2022-09-15 | 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; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000503816 | SCV005884222 | likely benign | not specified | 2024-12-10 | criteria provided, single submitter | clinical testing | Variant summary: VLDLR c.2371G>A (p.Val791Ile) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 251338 control chromosomes, predominantly at a frequency of 0.0015 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 1.34 fold of the estimated maximal expected allele frequency for a pathogenic variant in VLDLR causing Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 phenotype (0.0011). To our knowledge, no occurrence of c.2371G>A in individuals affected with Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 437225). Based on the evidence outlined above, the variant was classified as likely benign. |