ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.443C>T (p.Pro148Leu) (rs1331661730)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000785878 SCV000924297 uncertain significance Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) 2019-04-17 criteria provided, single submitter clinical testing The proband had a homozygous p.Pro148Leu variant in the SUCLG1 gene. The variant has previously been reported in an Indian family with an autosomal recessive inheritance. The proband, born of a non-consanguineous marriage, presented with clinical indication of neurological regression with choreoathetoid movements, abnormal movements of limbs, dystonia, hearing deficit, speech delay and elevated levels of blood C5-OH and C4-DC. MRI of his brain revealed white matter changes in the frontoparietal region and posterior putamen signal changes. The variant is not reported in the 1000 Genomes and ExAC databases. In silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. In summary, the p.Pro148Leu variant meets our criteria to be classified as an uncertain significant.

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