ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.412C>T (p.Arg138Cys)

gnomAD frequency: 0.00002  dbSNP: rs1238632042
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003403181 SCV004120867 likely pathogenic BBS5-related condition 2022-08-20 criteria provided, single submitter clinical testing The BBS5 c.412C>T variant is predicted to result in the amino acid substitution p.Arg138Cys. This variant, along with two additional variants in BBS5, was reported in an individual with cone dystrophy (Supplementary Table S2, Carss et al. 2017. PubMed ID: 28041643). A different missense variant affecting the same amino acid residue (c.413G>A, p.Arg138His) was reported in the homozygous state in an individual with Bardet-Biedl syndrome (Sathya Priya et al. 2015. PubMed ID: 24400638). This variant is reported in 0.0057% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-170349409-C-T). This variant is interpreted as likely pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504629 SCV000598743 likely pathogenic Cone dystrophy 2015-01-01 no assertion criteria provided research

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