ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.21A>C (p.Pro7=) (rs727504831)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000156171 SCV000205887 likely benign not specified 2013-11-22 criteria provided, single submitter clinical testing Pro7Pro (c.21A>C) in Exon 1 of GPR98: This variant is not expected to have clini cal significance because it does not alter an amino acid residue and, although i t is located in the second to last base in the exon near the 5' splice site, com putational tools do not predict an impact to splicing.
Invitae RCV001240093 SCV001413016 uncertain significance not provided 2019-10-03 criteria provided, single submitter clinical testing This sequence change affects codon 7 of the ADGRV1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ADGRV1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ADGRV1-related conditions. ClinVar contains an entry for this variant (Variation ID: 179382). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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