ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.433C>A (p.His145Asn) (rs121908984)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641036 SCV000762654 uncertain significance Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 2019-07-14 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 145 of the SDHD protein (p.His145Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in individuals with clinical features of Cowden syndrome (PMID: 18678321, 21979946). Additionally, this variant has been reported in individual(s) affected with a personal and/or family history of head and neck paraganglioma (HNPGL) and/or pheochromocytoma and paranganglioma (PPGL)(PMID: 29386252). ClinVar contains an entry for this variant (Variation ID: 6918). This variant has been reported to have conflicting or insufficient data to determine the effect on SDHD protein function (PMID: 18678321). 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.
OMIM RCV000007327 SCV000027525 uncertain significance Cowden syndrome 3 2008-08-01 no assertion criteria provided literature only

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