ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1551+4A>G

gnomAD frequency: 0.00001  dbSNP: rs928294715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606754 SCV000719988 likely benign not specified 2017-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000649432 SCV000771260 likely benign Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 2023-10-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012124 SCV001172542 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-06 criteria provided, single submitter clinical testing The c.1551+4A>G intronic variant results from an A to G substitution 4 nucleotides after coding exon 11 in the SDHA gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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