ClinVar Miner

Submissions for variant NM_003002.4(SDHD):c.453A>C (p.Lys151Asn) (rs761953172)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231813 SCV000287828 uncertain significance Paraganglioma and gastric stromal sarcoma; Pheochromocytoma; Paragangliomas 1; Cowden syndrome 3 2018-09-03 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 151 of the SDHD protein (p.Lys151Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine 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 not been reported in the literature in individuals with a SDHD-related disease. ClinVar contains an entry for this variant (Variation ID: 239472). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on SDHD function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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