ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) (rs34737974)

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Total submissions: 5
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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 RCV000438509 SCV000511659 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152824 SCV000202220 benign not specified 2014-04-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000438509 SCV000699621 likely benign not provided 2016-07-11 criteria provided, single submitter clinical testing Variant summary: The BBS10 c.1631A>G (p.Asn544Ser) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index), and Asn544 is not located in a known functional domain of the Bardet-Biedl syndrome 10 protein. A functional study is consistent with the finding that this variant is a functional polymorphism (Zaghloul_2010) as the mutant was unable to rescue the morphant phenotype in zebrafish. This variant was found in 904/121572 control chromosomes (including 6 homozygotes), predominantly observed in the South Asian subpopulation at a frequency of 0.0161134 (266/16508). This frequency is about 12 times the estimated maximal expected allele frequency of a pathogenic BBS10 variant (0.0013363), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. This variant has been also reported as a polymorphism found in BBS patients (Stoetzel_2006). Two clinical labs have classified it as benign. Taken together, this variant is classified as Likely Benign.
Invitae RCV000204319 SCV000261859 benign Bardet-Biedl syndrome 2017-03-24 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152824 SCV000314383 likely benign not specified criteria provided, single submitter clinical testing

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