ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.726G>A (p.Met242Ile) (rs773588060)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000382295 SCV000336239 uncertain significance not provided 2015-10-14 criteria provided, single submitter clinical testing
Invitae RCV000539762 SCV000636518 uncertain significance Bardet-Biedl syndrome 2019-10-02 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 242 of the BBS1 protein (p.Met242Ile). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs773588060, ExAC 0.009%) but has not been reported in the literature in individuals with a BBS1-related disease. ClinVar contains an entry for this variant (Variation ID: 283883). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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