ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.996C>T (p.Asn332=)

gnomAD frequency: 0.05607  dbSNP: rs33946522
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123833 SCV000167176 benign not specified 2012-02-14 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 RCV000401829 SCV000427448 benign GRACILE syndrome 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 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 RCV000310745 SCV000427449 benign Leigh syndrome 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 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 RCV000363248 SCV000427450 benign Mitochondrial complex III deficiency nuclear type 1 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 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 RCV000123833 SCV000711846 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asn332Asn in exon 8 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 11.50% (994/8646) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs33946522).
Athena Diagnostics Inc RCV000677001 SCV001143154 benign not provided 2019-03-15 criteria provided, single submitter clinical testing
Invitae RCV000677001 SCV001718503 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527149 SCV001738077 benign Pili torti-deafness syndrome 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000401829 SCV001738078 benign GRACILE syndrome 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000363248 SCV001738079 benign Mitochondrial complex III deficiency nuclear type 1 2021-06-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000677001 SCV000802830 benign not provided 2016-02-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000401829 SCV001455778 benign GRACILE syndrome 2020-09-16 no assertion criteria provided clinical testing

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