ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.305C>A (p.Thr102Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001301254 SCV001490418 uncertain significance Legius syndrome 2020-06-17 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 102 of the SPRED1 protein (p.Thr102Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Legius syndrome (PMID: 22753041, 21548021, 31401120). This variant has been reported to affect SPRED1 protein function (PMID: 26635368). This variant disrupts the p.Thr102 amino acid residue in SPRED1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19920235, 21089071, 31401120, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.

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