Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000995091 | SCV001149091 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000995091 | SCV002311959 | uncertain significance | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 66 of the COL4A1 protein (p.Gln66Lys). This variant is present in population databases (rs751220553, gnomAD 0.01%). This missense change has been observed in individual(s) with congenital anomalies of the kidney and urinary tract (PMID: 31230195). ClinVar contains an entry for this variant (Variation ID: 807047). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on COL4A1 protein function. 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. |
Fulgent Genetics, |
RCV002497298 | SCV002790210 | uncertain significance | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 2021-12-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003424522 | SCV004117414 | uncertain significance | COL4A1-related condition | 2023-05-20 | criteria provided, single submitter | clinical testing | The COL4A1 c.196C>A variant is predicted to result in the amino acid substitution p.Gln66Lys. This variant was reported in individuals with Congenital anomalies of the kidney and urinary tract (Table 1, Kitzler et al. 2019. PubMed ID: 31230195). This variant is reported in 0.012% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/13-110866311-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Yale Center for Mendelian Genomics, |
RCV001849465 | SCV002106633 | likely pathogenic | Congenital anomaly of kidney and urinary tract | 2019-06-22 | no assertion criteria provided | literature only |