ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) (rs1555202697)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000578172 SCV000680009 likely pathogenic Bardet-Biedl syndrome 10 2017-02-23 criteria provided, single submitter clinical testing A homozygous missense variant was identified, NM_024685.3(BBS10):c.539G>A, in exon 2 of the BBS10 gene (Chr12:76741226). This substitution is predicted to create a change of a glycine to a glutamic acid at amino acid position 180, NP_078961.3(BBS10):p.(Gly180Glu). The glycine at this position has high conservation and is located in a TCP-1/cpn60 chaperonin family domain. Grantham assessment is likely pathogenic for this variant due to both amino acid properties and conservation. In silico software predicts this variant to be disease causing. This variant has not been previously observed in our patient cohort and has not been observed in population databases. It has been previously reported in a patient with Bardet-Biedl syndrome (Janssen S. et al, 2011). Subsequent testing of parental samples indicated that they are carriers of this variant. Based on current information this variant has been classified as LIKELY PATHOGENIC.
Counsyl RCV000578172 SCV000795587 uncertain significance Bardet-Biedl syndrome 10 2017-11-09 criteria provided, single submitter clinical testing

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