ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.683T>A (p.Val228Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics laboratory, Department of Obstetrics & Gynae, Institute of Kidney Diseases & Research Centre Dr. H.L. Trivedi Institute Of Transplantation Sciences RCV004760314 SCV005359932 uncertain significance Bardet-Biedl syndrome 2 2024-07-16 no assertion criteria provided clinical testing A compound heterozygous missense variant and c.683T>A in BBS2 (chr16:56540066; Depth:210x) gene was detected. The variant (p.Val228Asp) replaces valine with aspartic acid at 228th amino acid position. The variant has not been observed in the 1000 genomes and topmed database but has a minor allele frequency in the gnomAD database. The variant has not been reported in clinvar database. In silico predictions are deleterious by SIFT, PolyPhen2, CADD, REVEL and MVP. Based on the aforementioned evidence, the variant is classified as a variant of uncertain significance according to the ACMG-AMP classification system.

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