ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys)

gnomAD frequency: 0.00002  dbSNP: rs184614863
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493436 SCV002783513 uncertain significance Bardet-Biedl syndrome 1 2022-04-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535756 SCV003466890 uncertain significance Bardet-Biedl syndrome 2022-02-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 554 of the BBS1 protein (p.Ser554Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 30718709). ClinVar contains an entry for this variant (Variation ID: 636150). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Dept Of Ophthalmology, Nagoya University RCV003889984 SCV004707626 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787784 SCV000926792 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004742636 SCV005345393 uncertain significance BBS1-related disorder 2024-04-09 no assertion criteria provided clinical testing The BBS1 c.1660A>T variant is predicted to result in the amino acid substitution p.Ser554Cys. This variant was reported as a variant of uncertain significance in the homozygous state in an individual with retinitis pigmentosa (Table S4 Jespersgaard et al. 2019. PubMed ID: 30718709). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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