ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) (rs397514541)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695865 SCV000824387 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-06-13 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 509 of the SDHA protein (p.Ser509Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with leukodystrophy, cardiomyopathy and mitochondrial complex II deficiency (PMID: 22972948, 26642834). ClinVar contains an entry for this variant (Variation ID: 39586). Experimental studies have shown a loss of fully assembled complex II and SDHA protein in fibroblast mitochondria and a reduction of complex II enzyme activity in a muscle biopsy, both isolated from an individual carrying this missense change (PMID: 22972948). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000032786 SCV000056550 pathogenic Mitochondrial complex II deficiency 2012-09-01 no assertion criteria provided literature only

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