Submissions for variant NM_024685.4(BBS10):c.1337_1338del (p.Phe446fs)

dbSNP: rs1389599028

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	RCV001251482	SCV001427135	likely pathogenic	Bardet-Biedl syndrome 10	2018-08-06	criteria provided, single submitter	clinical testing	A homozygous frameshift deletion variant, NM_024685.3(BBS10):c.1337_1338delTT, has been identified in exon 2 of 2 of the BBS10 gene. This deletion is predicted to create a frameshift starting at amino acid position 446, introducing a stop codon 3 residues downstream (NP_078961.3(BBS10):p.(Phe446Tyrfs*3)). This variant is predicted to result in loss of protein function through truncation (although no known functional domains are affected). However, loss of function via NMD has not been excluded. The variant is present in the gnomAD database at a frequency of 0.0004% (1 heterozygote). This variant has not been previously reported in clinical cases. Multiple truncating mutations downstream of this variant have also been shown to cause Bardet-Biedl syndrome 10 (ClinVar, HGMD). Based on the information available at the time of curation, this variant has been classified as LIKELY PATHOGENIC.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	RCV001251482	SCV002053979	pathogenic	Bardet-Biedl syndrome 10		criteria provided, single submitter	clinical testing