ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)

dbSNP: rs1363498219
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV001172268 SCV001237459 pathogenic Bardet-Biedl syndrome 2020-04-15 criteria provided, single submitter clinical testing absent from gnomAD and 1000genomes, position 339 is buried in the apical domain within the chaperonin type II superfamily topology at a relatively conserved position accepting only hydrophobic residues (mostly Valine, Leucine and Isoleucine). The Grantham distance is as expected high (152) when comparing a Valine (hydrophobic) to an Aspartic acid (Acidic).

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