ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) (rs142863601)

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Total submissions: 8
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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 RCV000224320 SCV000280907 likely benign not provided 2016-04-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152829 SCV000202225 benign not specified 2014-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000152829 SCV000246779 likely benign not specified 2015-06-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000709626 SCV000744061 benign Bardet-Biedl syndrome 1 2014-12-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000709626 SCV000745981 benign Bardet-Biedl syndrome 1 2017-04-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000152829 SCV000052051 benign not specified 2017-06-23 criteria provided, single submitter clinical testing Variant summary: The c.424G>A (p.Asp142Asn) in BBS10 gene is a missense change that involves a mildly conserved nucleotide and 3/4 in silico tools predict deleterious outcome. In In vivo experiments D142N was able to rescue the morphant phenotype similarly to the WT and was classified as "Benign" change (Zaghloul, 2010) (BS3). The variant was found in the large and broad cohorts of ExAC project at an allele frequency of 0.0083 (1005/120074 chrs tested), predominantly in individuals of European ancestry (0.0133; 878/65994, including 7/9 homozygotes). This observed frequencies exceed the maximal expected allele frequency of a disease causing BBS10 allele (0.0013) (BS1). The variant was identified in compound heterozygosity with BBS10 c.92C>T (p.P31L) in a BBS patient with a limited clinical information. It is not clear, whether c.424G>A was contributing to the clinical presentation of the patient or whether the real causal mutation may have been missed (Feuillan, 2011). In addition, the possibility of the variant being a modifier or a partner in a “triallelic inheritance” cannot be completely ruled out. The variant was identified in Joubert Syndrome (JS) patient who carried two causative mutations in TME231 and was proposed to be a potential modifier. Lastly, the variant of interest has been reported as “Likely Benign/Benign” by reputable databases/clinical laboratories (BP6). Taking together, by applying ACMG guidelines the variant was classified as Benign.
Invitae RCV000029403 SCV000218829 benign Bardet-Biedl syndrome 2017-07-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000152829 SCV000314386 likely benign not specified criteria provided, single submitter clinical testing

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