ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) (rs1555202584)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586002 SCV000699622 pathogenic Bardet-Biedl syndrome 2017-06-26 criteria provided, single submitter clinical testing Variant summary: The variant results in a deletion of a nucleotide leading to a termination codon at position 559 of BBS10. It is absent from the large and broad cohorts of the ExAC project while it was observed in Bardet-Biedl syndrome patients in compound heterozygosity with potentially pathogenic BBS10 variants c.271_272insT; p.C91fs) and c.1091del, p.Asn364Thrfs*5 (Pathogenic in ClinVar), indicating pathogenicity. Moreover, c.1677C>A (p.Y559X) and c.1676dupA (p.Tyr559Terfs) variants have also been reported in association with BBS, indicating the variant to be located in a mutational hotspot and suggesting pathogenicity. Additionally, our laboratory classified truncating variants affecting the same codon as the variant of interest (c.1677C>A, p.Y559X) or located downstream c.2119_2120delGT, Val707Terfs) in the pathogenic spectrum, further supporting pathogenicity. Considering all evidence, the variant was classified as pathogenic.
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV000586002 SCV000897984 pathogenic Bardet-Biedl syndrome 2018-10-01 criteria provided, single submitter clinical testing
Counsyl RCV000984154 SCV001132137 likely pathogenic Bardet-Biedl syndrome 10 2015-05-04 no assertion criteria provided clinical testing

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