ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=)

gnomAD frequency: 0.15996  dbSNP: rs35843327
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123835 SCV000167178 benign not specified 2011-10-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV000270977 SCV000427451 benign Mitochondrial complex III deficiency nuclear type 1 2018-01-13 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000323471 SCV000427452 benign GRACILE syndrome 2018-01-13 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000361877 SCV000427453 benign Leigh syndrome 2018-01-13 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000123835 SCV000711833 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro339Pro in exon 9 of BCS1L: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 50.45% (667/1322) of African chromosomes by the 1000 Genomes Project (Phase 3; dbSNP rs35843327).
Invitae RCV000677002 SCV001718504 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527150 SCV001738080 benign Pili torti-deafness syndrome 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000323471 SCV001738081 benign GRACILE syndrome 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000270977 SCV001738082 benign Mitochondrial complex III deficiency nuclear type 1 2021-06-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000677002 SCV000802831 benign not provided 2016-02-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000323471 SCV001455779 benign GRACILE syndrome 2020-09-16 no assertion criteria provided clinical testing

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