ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) (rs201747452)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214817 SCV000271809 uncertain significance not specified 2018-12-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Pro4811Gln va riant in ADGRV1 has been previously reported by our laboratory in 2 individuals with hearing loss. It has also been reported in ClinVar (Variation ID 228712). T his variant has been identified in 0.05% (68/123974) of European chromosomes by gnomAD ( Computational prediction tools and co nservation analysis suggest that the p.Pro4811Gln variant may not impact the pro tein, though this information is not predictive enough to rule out pathogenicity . In summary, the clinical significance of the p.Pro4811Gln variant is uncertai n. ACMG/AMP criteria applied: PM2_Supporting, BP4.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726662 SCV000345895 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV000726662 SCV001220392 uncertain significance not provided 2020-08-07 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 4811 of the ADGRV1 protein (p.Pro4811Gln). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and glutamine. This variant is present in population databases (rs201747452, ExAC 0.06%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 228712). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
Illumina Clinical Services Laboratory,Illumina RCV001152053 SCV001313257 uncertain significance Usher syndrome, type 2C 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001152053 SCV001573389 uncertain significance Usher syndrome, type 2C 2021-04-08 criteria provided, single submitter research The GPR98 c.14432C>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.

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