ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)

gnomAD frequency: 0.00019  dbSNP: rs145094101
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000696634 SCV000825202 uncertain significance Bardet-Biedl syndrome 2022-07-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 296 of the BBS1 protein (p.Ile296Thr). This variant is present in population databases (rs145094101, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 574647). 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 C25"). 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 RCV001274036 SCV002775946 uncertain significance Bardet-Biedl syndrome 1 2022-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533460 SCV003688792 uncertain significance Inborn genetic diseases 2021-08-17 criteria provided, single submitter clinical testing The c.887T>C (p.I296T) alteration is located in exon 10 (coding exon 10) of the BBS1 gene. This alteration results from a T to C substitution at nucleotide position 887, causing the isoleucine (I) at amino acid position 296 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001274036 SCV003829791 uncertain significance Bardet-Biedl syndrome 1 2021-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411622 SCV004110322 uncertain significance BBS1-related condition 2023-09-26 criteria provided, single submitter clinical testing The BBS1 c.887T>C variant is predicted to result in the amino acid substitution p.Ile296Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.064% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-66290983-T-C), which may be too common to be an undocumented disease causing variant. Although we suspect this variant may be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001274036 SCV001457741 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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