Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Diagnostics Services |
RCV001799574 | SCV002043783 | uncertain significance | Knobloch syndrome | 2021-12-06 | criteria provided, single submitter | clinical testing | The c.2365G>A variant is not present in publicly available population databases like EVS. The heterozygous state of the variant is present in 1000 Genomes, ExAC, gnomAD and dbSNP at a very low frequency. The variant is not present in Indian Exome Database and in our in-house exome database. The variant was not earlier reported to ClinVar, HGMD or OMIM databases in any affected individuals. Predictions from different in-silico pathogenicity prediction programs like SIFT, PolyPhen-2, MutationTaster2, CADD, Varsome etc. are contradictory, however these predictions have not been confirmed by any published functional studies. |
| Labcorp Genetics |
RCV001869438 | SCV002112905 | uncertain significance | not provided | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 609 of the COL18A1 protein (p.Ala609Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1329498). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV004040872 | SCV004927461 | uncertain significance | Inborn genetic diseases | 2024-01-16 | criteria provided, single submitter | clinical testing | The c.1825G>A (p.A609T) alteration is located in exon 16 (coding exon 16) of the COL18A1 gene. This alteration results from a G to A substitution at nucleotide position 1825, causing the alanine (A) at amino acid position 609 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |