ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.1049C>A (p.Thr350Asn)

dbSNP: rs727504607
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Total submissions: 3
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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 RCV000155858 SCV000205569 likely benign not specified 2013-06-11 criteria provided, single submitter clinical testing Thr350Asn in exon 7 of GPR98: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including mammals. In add ition, computational analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to the protein.
Invitae RCV001850139 SCV002143418 uncertain significance not provided 2022-02-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 350 of the ADGRV1 protein (p.Thr350Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 179074). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV001850139 SCV002599474 uncertain significance not provided 2022-05-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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