ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys)

gnomAD frequency: 0.00541  dbSNP: rs35564486
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125543 SCV000168995 benign not specified 2014-04-04 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000440340 SCV000510806 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001086140 SCV000650880 benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001086140 SCV000884698 likely benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2023-11-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001086140 SCV001324567 benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 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.
Fulgent Genetics, Fulgent Genetics RCV001086140 SCV002803301 benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2021-09-30 criteria provided, single submitter clinical testing

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