ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) (rs183851734)

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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 RCV000150787 SCV000198295 uncertain significance not specified 2017-12-11 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Glu5429Lys va riant in ADGRV1 has been previously reported in 2 individuals with hearing loss by our laboratory; however, a variant affecting the remaining copy of ADGRV1 was not identified. This variant was identified in 0.24% (58/24022) of African chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs183851734). Although this variant has been seen in the general pop ulation, its frequency is not high enough to rule out a pathogenic role. Computa tional prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, while the clinical signific ance of the p.Glu5429Lys variant is uncertain, its frequency in the general popu lation suggests that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724045 SCV000232434 uncertain significance not provided 2016-05-25 criteria provided, single submitter clinical testing
Invitae RCV000724045 SCV001025897 likely benign not provided 2020-11-28 criteria provided, single submitter clinical testing

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