ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.2566G>T (p.Val856Leu)

gnomAD frequency: 0.00001  dbSNP: rs764122627
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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 RCV001361284 SCV001557255 uncertain significance Bardet-Biedl syndrome 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 856 of the BBS9 protein (p.Val856Leu). This variant is present in population databases (rs764122627, gnomAD 0.04%). 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: 1053001). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV003284260 SCV003975288 uncertain significance Inborn genetic diseases 2023-05-03 criteria provided, single submitter clinical testing The c.2566G>T (p.V856L) alteration is located in exon 22 (coding exon 21) of the BBS9 gene. This alteration results from a G to T substitution at nucleotide position 2566, causing the valine (V) at amino acid position 856 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038127 SCV005666500 uncertain significance Bardet-Biedl syndrome 9 2024-01-08 criteria provided, single submitter clinical testing

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