ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.332C>T (p.Thr111Ile)

gnomAD frequency: 0.00001  dbSNP: rs375992092
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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 RCV001314258 SCV001504784 uncertain significance Bardet-Biedl syndrome 2024-07-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 111 of the BBS5 protein (p.Thr111Ile). This variant is present in population databases (rs375992092, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with BBS5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1015407). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BBS5 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 RCV002476456 SCV002781568 uncertain significance Bardet-Biedl syndrome 5 2021-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545068 SCV003538498 uncertain significance Inborn genetic diseases 2025-01-18 criteria provided, single submitter clinical testing The c.332C>T (p.T111I) alteration is located in exon 5 (coding exon 5) of the BBS5 gene. This alteration results from a C to T substitution at nucleotide position 332, causing the threonine (T) at amino acid position 111 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004753278 SCV005365433 uncertain significance BBS5-related disorder 2024-05-01 no assertion criteria provided clinical testing The BBS5 c.332C>T variant is predicted to result in the amino acid substitution p.Thr111Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of African descent in gnomAD. 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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