ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.1031A>G (p.His344Arg) (rs376679136)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465551 SCV000549918 uncertain significance Legius syndrome 2018-09-17 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 344 of the SPRED1 protein (p.His344Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs376679136, ExAC 0.001%). This variant has been reported in an individual with suspected Legius syndrome (PMID: 21548021). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but 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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