ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) (rs1597020018)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV001005004 SCV001164565 uncertain significance Retinitis pigmentosa 74 2018-12-03 criteria provided, single submitter research The heterozygous p.Leu221Pro variant in BBS2 was identified by our study in the compound heterozygous state, with a likely pathogenic variant, in one individual with retinitis pigmentosa. The presence of this variant in combination with a likely pathogenic variant increases the likelihood that the p.Leu221Pro variant is pathogenic. The p.Leu221Pro variant in BBS2 has not been previously reported in individuals with Retinitis Pigmentosa and was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinial significance of the p.Leu221Pro variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3, PM3_Supporting (Richards 2015).

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