ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1185C>G (p.His395Gln)

dbSNP: rs863224793
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000197080 SCV000255122 uncertain significance Bardet-Biedl syndrome 2022-10-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 395 of the BBS10 protein (p.His395Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 216765). 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) performed at Invitae indicates that this missense variant is expected to disrupt BBS10 protein function. This variant disrupts the p.His395 amino acid residue in BBS10. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 31639430). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Natera, Inc. RCV001828036 SCV002091773 uncertain significance Bardet-Biedl syndrome 10 2021-09-08 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004739591 SCV005342116 uncertain significance BBS10-related disorder 2023-12-15 no assertion criteria provided clinical testing The BBS10 c.1185C>G variant is predicted to result in the amino acid substitution p.His395Gln. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. An alternate nucleotide change affecting the same amino acid (p.His395Arg) has been reported in individuals with Bardet-Biedl syndrome (Chakrabarty et al. 2020. PubMed ID: 31639430). At this time, the clinical significance of the c.1185C>G (p.His395Gln) variant is uncertain due to the absence of conclusive functional and genetic evidence.

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