ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)

gnomAD frequency: 0.00014  dbSNP: rs372102223
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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 RCV001064728 SCV001229646 uncertain significance Bardet-Biedl syndrome 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 705 of the BBS12 protein (p.Thr705Met). This variant is present in population databases (rs372102223, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 858778). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001576577 SCV001803791 uncertain significance not provided 2020-04-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001272728 SCV002775582 uncertain significance Bardet-Biedl syndrome 12 2024-04-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001272728 SCV003829795 uncertain significance Bardet-Biedl syndrome 12 2021-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030556 SCV004911768 uncertain significance Inborn genetic diseases 2023-01-06 criteria provided, single submitter clinical testing The c.2114C>T (p.T705M) alteration is located in exon 2 (coding exon 1) of the BBS12 gene. This alteration results from a C to T substitution at nucleotide position 2114, causing the threonine (T) at amino acid position 705 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272728 SCV001454986 uncertain significance Bardet-Biedl syndrome 12 2020-01-24 no assertion criteria provided clinical testing

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