ClinVar Miner

Submissions for variant NM_032273.4(TMEM126A):c.191G>A (p.Arg64His)

gnomAD frequency: 0.00161  dbSNP: rs11556797
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125527 SCV000168979 benign not specified 2014-03-26 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 RCV000625489 SCV000374707 benign Autosomal recessive optic atrophy, OPA7 type 2018-01-13 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625489 SCV000745561 likely benign Autosomal recessive optic atrophy, OPA7 type 2017-01-16 criteria provided, single submitter clinical testing
Invitae RCV000676593 SCV001117141 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676593 SCV000802381 likely benign not provided 2016-03-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125527 SCV001919902 benign not specified no assertion criteria provided clinical testing

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