ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser)

gnomAD frequency: 0.00489  dbSNP: rs61730896
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123571 SCV000166910 benign not specified 2013-05-23 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 RCV000333876 SCV000481733 benign Severe X-linked mitochondrial encephalomyopathy 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000475567 SCV000562799 benign Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498588 SCV002804789 likely benign Charcot-Marie-Tooth disease X-linked recessive 4; Deafness, X-linked 5; Spondyloepimetaphyseal dysplasia, Bieganski type; Severe X-linked mitochondrial encephalomyopathy 2021-12-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573470 SCV005279496 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573470 SCV001799392 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000123571 SCV001920319 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000123571 SCV001964046 benign not specified no assertion criteria provided clinical testing

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