ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.752C>T (p.Ala251Val)

gnomAD frequency: 0.00034  dbSNP: rs149760791
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692724 SCV000820562 uncertain significance Bardet-Biedl syndrome 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 251 of the BBS10 protein (p.Ala251Val). This variant is present in population databases (rs149760791, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with BBS10-related conditions. ClinVar contains an entry for this variant (Variation ID: 571548). 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 not expected to disrupt BBS10 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.
Baylor Genetics RCV001272004 SCV001529432 uncertain significance Bardet-Biedl syndrome 10 2018-09-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001272004 SCV002785449 uncertain significance Bardet-Biedl syndrome 10 2022-03-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411612 SCV004113127 uncertain significance BBS10-related condition 2023-08-25 criteria provided, single submitter clinical testing The BBS10 c.752C>T variant is predicted to result in the amino acid substitution p.Ala251Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.084% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-76741013-G-A), which may be too common to be an undocumented primary cause of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001272004 SCV001453632 uncertain significance Bardet-Biedl syndrome 10 2019-10-28 no assertion criteria provided clinical testing

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