ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.725T>C (p.Met242Thr)

gnomAD frequency: 0.00002  dbSNP: rs771506842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245255 SCV001418530 uncertain significance Bardet-Biedl syndrome 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 242 of the BBS1 protein (p.Met242Thr). This variant is present in population databases (rs771506842, gnomAD 0.02%). 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: 969824). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV001835232 SCV002806216 uncertain significance Bardet-Biedl syndrome 1 2021-12-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835232 SCV002094738 uncertain significance Bardet-Biedl syndrome 1 2020-08-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003414061 SCV004116629 uncertain significance BBS1-related disorder 2024-05-02 no assertion criteria provided clinical testing The BBS1 c.725T>C variant is predicted to result in the amino acid substitution p.Met242Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of Latino 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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