ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.18840A>G (p.Gln6280=)

dbSNP: rs1797154164
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063740 SCV001228600 uncertain significance not provided 2021-11-09 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 857963). This variant has not been reported in the literature in individuals affected with ADGRV1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 6280 of the ADGRV1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ADGRV1 protein.

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