ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.983T>A (p.Leu328His)

dbSNP: rs753806664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068551 SCV001233669 uncertain significance Bardet-Biedl syndrome 2022-11-08 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BBS2 protein function. ClinVar contains an entry for this variant (Variation ID: 861928). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with histidine, which is basic and polar, at codon 328 of the BBS2 protein (p.Leu328His).
Natera, Inc. RCV001273853 SCV001457438 uncertain significance Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing

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