ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys)

dbSNP: rs1555202700
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672526 SCV000797638 uncertain significance Bardet-Biedl syndrome 10 2018-02-02 criteria provided, single submitter clinical testing
3billion RCV000672526 SCV002059078 uncertain significance Bardet-Biedl syndrome 10 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with BBS10 related disorder (PMID:19797195, PS1_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.688, PP3_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000735925 SCV000839561 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation

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