Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001195222 | SCV001365529 | uncertain significance | not specified | 2019-09-13 | criteria provided, single submitter | clinical testing | The p.Ile2193Thr variant in ADGRV1 has been reported in 1 individual with hearing loss by our laboratory, who was compound heterozygous for a second variant of uncertain significance in ADGRV1. This variant has been identified in 0.006% (7/127244) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2. |
Labcorp Genetics |
RCV002561029 | SCV002954915 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004033453 | SCV004862916 | uncertain significance | Inborn genetic diseases | 2023-11-29 | criteria provided, single submitter | clinical testing | The c.6578T>C (p.I2193T) alteration is located in exon 30 (coding exon 30) of the ADGRV1 gene. This alteration results from a T to C substitution at nucleotide position 6578, causing the isoleucine (I) at amino acid position 2193 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV004738184 | SCV005354678 | uncertain significance | ADGRV1-related disorder | 2024-08-23 | no assertion criteria provided | clinical testing | The ADGRV1 c.6578T>C variant is predicted to result in the amino acid substitution p.Ile2193Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |