ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.739A>G (p.Ile247Val) (rs571292356)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214276 SCV000277070 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000230633 SCV000288151 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 247 of the SDHA protein (p.Ile247Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs571292356, ExAC 0.2%). This variant has not been reported in the literature in individuals with SDHA-related disease. ClinVar contains an entry for this variant (Variation ID: 232828). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Counsyl RCV000663181 SCV000786348 uncertain significance Paragangliomas 5 2018-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765826 SCV000897221 uncertain significance Leigh syndrome; Mitochondrial complex II deficiency; Dilated cardiomyopathy 1GG; Paragangliomas 5 2018-10-31 criteria provided, single submitter clinical testing

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