ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.243G>A (p.Pro81=) (rs575262156)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824339 SCV000965234 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2019-08-24 criteria provided, single submitter clinical testing This sequence change affects codon 81 of the SDHD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SDHD protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SDHD-related conditions. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986021 SCV001134817 uncertain significance not provided 2018-10-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015544 SCV001176389 likely benign Hereditary cancer-predisposing syndrome 2018-09-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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