ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) (rs776888362)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000765833 SCV000897228 uncertain significance Leigh syndrome; Mitochondrial complex II deficiency; Dilated cardiomyopathy 1GG; Paragangliomas 5 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000528318 SCV000651352 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-10-03 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 384 of the SDHA protein (p.Ser384Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine. This variant is present in population databases (rs776888362, ExAC 0.002%). This variant has not been reported in the literature in individuals with SDHA-related disease. ClinVar contains an entry for this variant (Variation ID: 472302). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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