ClinVar Miner

Submissions for variant NM_005807.6(PRG4):c.3254_3260del (p.Asn1084_Ser1085insTer)

dbSNP: rs769917456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001283771 SCV005905054 pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2023-11-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000992974 /PMID: 10545950). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283771 SCV001469143 pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 2020-09-10 no assertion criteria provided clinical testing
OMIM RCV001283771 SCV000026188 pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 1999-11-01 no assertion criteria provided literature only

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