ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.15980TCT[1] (p.Phe5328del) (rs766355750)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485519 SCV000565048 likely pathogenic not provided 2014-01-28 criteria provided, single submitter clinical testing The c.15983_15985delTCT variant in the GPR98 gene has not been reported as a pathogenic variant or as a benign polymorphism, to our knowledge. The c.15983_15985delTCT variant in the GPR98 gene causing an in-frame deletion of one amino acid. This deleted amino acid is well-conserved among species in the protein and belongs to the Calx beta 34 domain. Therefore, c.15983_15985delTCT is a strong candidate for a pathogenic variant, although the possibility that it is a benign polymorphism cannot be completely excluded.
Invitae RCV000485519 SCV001215745 uncertain significance not provided 2020-10-12 criteria provided, single submitter clinical testing This variant, c.15983_15985del, results in the deletion of 1 amino acid(s) of the ADGRV1 protein (p.Phe5328del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766355750, ExAC 0.002%). This variant has been observed in individual(s) with clinical features of Usher syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 418238). 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.

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