Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000310332 | SCV000340291 | uncertain significance | not provided | 2016-03-24 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001104532 | SCV001261405 | uncertain significance | Cenani-Lenz syndactyly syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV004701384 | SCV005202775 | uncertain significance | not specified | 2024-07-26 | criteria provided, single submitter | clinical testing | Variant summary: LRP4 c.956G>A (p.Cys319Tyr) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251278 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.956G>A in individuals affected with LRP4-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 286739). Based on the evidence outlined above, the variant was classified as uncertain significance. |