ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.101T>G (p.Phe34Cys) (rs141802836)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230215 SCV000287810 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 34 of the SDHD protein (p.Phe34Cys). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is present in population databases (rs141802836, ExAC 0.04%). This variant has not been reported in the literature in individuals with SDHD-related disease. ClinVar contains an entry for this variant (Variation ID: 135196). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; 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.
Ambry Genetics RCV000569765 SCV000675108 likely benign Hereditary cancer-predisposing syndrome 2017-09-15 criteria provided, single submitter clinical testing In silico models in agreement (benign)
GeneDx RCV001545828 SCV001765234 uncertain significance not provided 2021-03-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24728327)
ITMI RCV000122008 SCV000086219 not provided not specified 2013-09-19 no assertion provided reference population

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