ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.765G>A (p.Met255Ile) (rs139658279)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224072 SCV000281441 likely benign not provided 2016-01-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Counsyl RCV000667212 SCV000791630 uncertain significance Bardet-Biedl syndrome 10 2017-05-26 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625184 SCV000745511 likely benign Bardet-Biedl syndrome 1 2017-05-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000224072 SCV000331887 uncertain significance not provided 2015-09-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625184 SCV000744060 likely benign Bardet-Biedl syndrome 1 2016-05-04 criteria provided, single submitter clinical testing
Invitae RCV000801717 SCV000941509 uncertain significance Bardet-Biedl syndrome 2018-07-15 criteria provided, single submitter clinical testing This sequence change replaces methionine with isoleucine at codon 255 of the BBS10 protein (p.Met255Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is present in population databases (rs139658279, ExAC 0.1%). This variant has been observed in an individual affected with Bardet-Biedl syndrome (PMID: 20120035). However, this individual was also found to have a homozygous frameshift in the BBS2 gene, indicating that this c.765G>A change was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 235677). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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