Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001433823 | SCV001636620 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004690105 | SCV005185614 | benign | not specified | 2024-05-30 | criteria provided, single submitter | clinical testing | Variant summary: COL2A1 c.1680+8_1680+9delinsTA alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.6e-05 in 1552702 control chromosomes. The observed variant frequency is approximately 3-fold of the estimated maximal expected allele frequency for a pathogenic variant in COL2A1 causing Achondrogenesis, Type II phenotype (1.3e-05). c.1680+8_1680+9delinsTA has been reported in the literature in unspecified individuals affected with short statue (Chen_2022). These report(s) do not provide unequivocal conclusions about association of the variant with Achondrogenesis, Type II. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 35250876). ClinVar contains an entry for this variant (Variation ID: 1108352). Based on the evidence outlined above, the variant was classified as benign. |