ClinVar Miner

Submissions for variant NC_012920.1(MT-TE):m.14724G>A

dbSNP: rs1603224846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000993793 SCV001146967 pathogenic Cerebellar ataxia; Gonadal dysgenesis; Progressive spastic paraparesis; Abnormal basal ganglia MRI signal intensity 2019-12-09 criteria provided, single submitter clinical testing heteroplasmic 35% in blood sample, haplogroup J1b1a1, PS2+PM2+PM7+PM8+PM9 (Modified ACMG Guidelines Mito Lab Baylor College), variant present in a patient together with m.9049G>A. Variant was published in several independant cases (PMID: 23847141, PMID: 17266923).
Mendelics RCV002249599 SCV002517690 pathogenic Mitochondrial disease 2022-05-04 criteria provided, single submitter clinical testing

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