ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.685G>A (p.Gly229Arg) (rs41495051)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000509324 SCV000607105 not provided Leigh syndrome; Dilated cardiomyopathy 1GG no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000814118 SCV000954518 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-12-19 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 229 of the SDHA protein (p.Gly229Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 441034). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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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