Submissions for variant NM_024685.4(BBS10):c.959_962del (p.Ser320fs)

dbSNP: rs758522600

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000672454	SCV000797560	likely pathogenic	Bardet-Biedl syndrome 10	2018-02-06	criteria provided, single submitter	clinical testing
Invitae	RCV001382046	SCV001580652	pathogenic	Bardet-Biedl syndrome	2024-01-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ser320Ilefs*5) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 404 amino acid(s) of the BBS10 protein. This variant is present in population databases (rs758522600, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with clinical features of BBS10-related conditions (PMID: 27894351). ClinVar contains an entry for this variant (Variation ID: 266102). This variant disrupts a region of the BBS10 protein in which other variant(s) (p.Val707*) have been determined to be pathogenic (PMID: 20472660, 22773737, 25982971, 27486776). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000256445	SCV000322797	pathogenic	Asphyxiating thoracic dystrophy 3		no assertion criteria provided	research
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000672454	SCV001132527	likely pathogenic	Bardet-Biedl syndrome 10	2015-04-02	no assertion criteria provided	curation