ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) (rs142135772)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130895 SCV000185804 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-21 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000231432 SCV000287822 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2020-01-06 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 93 of the SDHD protein (p.Tyr93Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs142135772, ExAC 0.1%). This variant has been reported in individuals affected with Cowden syndrome (PMID: 25376524). ClinVar contains an entry for this variant (Variation ID: 135197). An experimental study has shown that this missense change does not affect SDHD protein expression, enzymatic activity, or mitochondrial morphology in a cultured neuroblastoma cell line (PMID: 15331017). 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.
ITMI RCV000122009 SCV000086220 not provided not specified 2013-09-19 no assertion provided reference population

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