Submissions for variant NM_024685.4(BBS10):c.1158G>A (p.Leu386=)

dbSNP: rs138702315

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094233	SCV000381151	uncertain significance	Bardet-Biedl syndrome 10	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000588184	SCV000699620	likely benign	not provided	2016-03-07	criteria provided, single submitter	clinical testing	Variant summary: The c.1158G>A in BBS10 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at an overall frequency of 0.098%, predominantly in individuals of European origin (0.17%). The observed frequency slightly exceeds the maximum expected allele frequency for a pathogenic BBS10 variant of 0.13%, suggesting that the variant may be a rare functional polymorphism. The variant has not, to our knowledge, been reported in affected patients via publication and/or reputable databases/clinical laboratories. Taken together, this variant has been classified as Likely Benign, until more information becomes available.
Invitae	RCV000331467	SCV001000553	likely benign	Bardet-Biedl syndrome	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000588184	SCV004135491	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	BBS10: BP4, BP7
Natera, Inc.	RCV001094233	SCV001462849	likely benign	Bardet-Biedl syndrome 10	2020-09-16	no assertion criteria provided	clinical testing