ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.1768G>A (p.Val590Ile)

gnomAD frequency: 0.00008  dbSNP: rs143016114
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175254 SCV000226706 uncertain significance not provided 2014-06-06 criteria provided, single submitter clinical testing
Invitae RCV001069518 SCV001234689 uncertain significance Bardet-Biedl syndrome 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 590 of the BBS9 protein (p.Val590Ile). This variant is present in population databases (rs143016114, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BBS9-related conditions. ClinVar contains an entry for this variant (Variation ID: 194802). 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 tolerated. 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.
Ambry Genetics RCV003372634 SCV004065589 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.1768G>A (p.V590I) alteration is located in exon 17 (coding exon 16) of the BBS9 gene. This alteration results from a G to A substitution at nucleotide position 1768, causing the valine (V) at amino acid position 590 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 RCV003977429 SCV004790156 uncertain significance BBS9-related condition 2023-10-18 criteria provided, single submitter clinical testing The BBS9 c.1768G>A variant is predicted to result in the amino acid substitution p.Val590Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-33407453-G-A). 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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