ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.772G>C (p.Asp258His)

gnomAD frequency: 0.00001  dbSNP: rs779297419
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000324276 SCV000343666 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001369749 SCV001566196 uncertain significance Bardet-Biedl syndrome 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 258 of the BBS1 protein (p.Asp258His). This variant is present in population databases (rs779297419, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289320). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV001278005 SCV002798194 uncertain significance Bardet-Biedl syndrome 1 2022-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278005 SCV001464993 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003417910 SCV004115213 uncertain significance BBS1-related disorder 2024-05-31 no assertion criteria provided clinical testing The BBS1 c.772G>C variant is predicted to result in the amino acid substitution p.Asp258His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.085% of alleles in individuals of East Asian descent in gnomAD. This variant could be benign. However, 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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