ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.8155+4G>T

dbSNP: rs397517438
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Total submissions: 1
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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 RCV000039641 SCV000063330 uncertain significance not specified 2011-11-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The 8155+4G>T varia nt in GPR98 has not been reported in the literature nor previously reported by o ur laboratory. This variant is located in the 5' splice region but does not affe ct the invariant +1 and +2 positions. However, positions +3 to +6 are part of th e splicing consensus sequence and variants involving these positions sometimes a ffect splicing. Although position +4 is part of the splice site region, the refe rence sequence was already divergent from consensus (normally an A at this posit ion) and therefore this variant is less likely to disrupt splicing. In addition , splicing prediction programs do not predict a lower score for splice consensus sequence matching. In summary, based upon the arguments described above, we wou ld lean towards a more likely benign role.

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