ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.6578T>C (p.Ile2193Thr)

gnomAD frequency: 0.00004  dbSNP: rs201999622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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 (formerly Invitae), Labcorp 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.
PreventionGenetics, part of Exact Sciences 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.

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