ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser) (rs144918959)

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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,Partners HealthCare Personalized Medicine RCV000220120 SCV000270239 likely benign not specified 2016-01-03 criteria provided, single submitter clinical testing p.Asn820Ser in exon 13 of GPR98: This variant is not expected to have clinical s ignificance due to a lack of conservation across species, including mammals. Of note, four mammals have a Serine (Ser) at this position. In addition, it has bee n identified in 24/9798 (0.24%) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org;dbSNP rs144918959).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726241 SCV000343121 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Invitae RCV000726241 SCV001232440 uncertain significance not provided 2020-10-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 820 of the ADGRV1 protein (p.Asn820Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs144918959, ExAC 0.2%). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 227404). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0. The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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