ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)

dbSNP: rs58447305
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123832 SCV000167175 benign not specified 2011-12-09 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 RCV000324040 SCV000427438 likely 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000376268 SCV000427439 likely benign 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000281286 SCV000427440 likely 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000123832 SCV000711810 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Asp210Asn in exon 5 of BCS1L: This variant is not expected to have clinical si gnificance because it has been identified in 23.75% (314/1322) of African chromo somes by the 1000 Genomes Project (Phase 3; dbSNP rs58447305).
Athena Diagnostics RCV000677000 SCV001143153 benign not provided 2018-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000677000 SCV001718502 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000376268 SCV001738073 benign Mitochondrial complex III deficiency nuclear type 1 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001527285 SCV001738246 benign Pili torti-deafness syndrome 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000324040 SCV001738247 benign GRACILE syndrome 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000677000 SCV005258845 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000677000 SCV000802829 benign not provided 2016-03-15 no assertion criteria provided clinical testing
Natera, Inc. RCV000324040 SCV001455777 benign GRACILE syndrome 2020-09-16 no assertion criteria provided clinical testing

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