ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1250C>T (p.Ala417Val)

dbSNP: rs537219462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093323 SCV001250247 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV001202294 SCV001373402 likely pathogenic Bardet-Biedl syndrome 2022-04-29 criteria provided, single submitter clinical testing This variant disrupts the p.Ala417 amino acid residue in BBS10. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 29806606). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 417 of the BBS10 protein (p.Ala417Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Bardet-Biedl syndrome and/or inherited retinal degeneration (PMID: 21052717, 32531858). ClinVar contains an entry for this variant (Variation ID: 552931).
Myriad Genetics, Inc. RCV000668281 SCV002060250 uncertain significance Bardet-Biedl syndrome 10 2021-11-08 criteria provided, single submitter clinical testing NM_024685.3(BBS10):c.1250C>T(A417V) is a missense variant classified as a variant of uncertain significance in the context of Bardet-Biedl syndrome, BBS10-related. A417V has been observed in cases with relevant disease (PMID: 32531858, 21052717). Functional assessments of this variant are not available in the literature. A417V has not been observed in population frequency databases. In summary, there is insufficient evidence to classify NM_024685.3(BBS10):c.1250C>T(A417V) as pathogenic or benign. Please note: this variant was assessed in the context of healthy population screening.

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