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

dbSNP: rs58447305

Total submissions: 12

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
Invitae	RCV000677000	SCV001718502	benign	not provided	2024-01-31	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
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