ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile)

gnomAD frequency: 0.00295  dbSNP: rs148278887
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200623 SCV000251192 benign not specified 2014-07-08 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000949252 SCV000602631 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000200623 SCV000711832 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Val205Ile in exon 5 of BCS1L: This variant is not expected to have clinical si gnificance because it has been identified in 5.64% (644/11418) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148278887).
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714568 SCV000845270 likely benign BCS1L-related disorder 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000949252 SCV001095502 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001137961 SCV001297961 uncertain significance Mitochondrial complex III deficiency nuclear type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001137962 SCV001297962 benign Leigh syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001137963 SCV001297963 benign GRACILE syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV000714568 SCV004736388 benign BCS1L-related disorder 2019-09-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001137963 SCV001455776 benign GRACILE syndrome 2020-09-16 no assertion criteria provided clinical testing

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