ClinVar Miner

Submissions for variant NM_001195305.3(BBIP1):c.233G>A (p.Arg78His)

gnomAD frequency: 0.00010  dbSNP: rs532149239
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363386 SCV001559496 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 78 of the BBIP1 protein (p.Arg78His). This variant is present in population databases (rs532149239, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with BBIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1054810). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002476656 SCV002780008 uncertain significance Bardet-Biedl syndrome 18 2022-05-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001363386 SCV005191037 uncertain significance not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001363386 SCV001920109 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001363386 SCV001973032 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953689 SCV004767823 uncertain significance BBIP1-related disorder 2023-11-03 no assertion criteria provided clinical testing The BBIP1 c.233G>A variant is predicted to result in the amino acid substitution p.Arg78His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0089% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-112660164-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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