ClinVar Miner

Submissions for variant NM_001195305.3(BBIP1):c.142A>G (p.Met48Val)

gnomAD frequency: 0.00004  dbSNP: rs565980586
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045059 SCV002290466 uncertain significance not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 48 of the BBIP1 protein (p.Met48Val). This variant is present in population databases (rs565980586, gnomAD 0.008%). 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: 1501977). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002486635 SCV002791957 uncertain significance Bardet-Biedl syndrome 18 2021-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004046024 SCV003728912 uncertain significance not specified 2022-08-16 criteria provided, single submitter clinical testing The c.299A>G (p.N100S) alteration is located in exon 5 (coding exon 4) of the BBIP1 gene. This alteration results from a A to G substitution at nucleotide position 299, causing the asparagine (N) at amino acid position 100 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003418318 SCV004116665 uncertain significance BBIP1-related disorder 2023-08-24 criteria provided, single submitter clinical testing The BBIP1 c.142A>G variant is predicted to result in the amino acid substitution p.Met48Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/10-112660255-T-C). 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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