ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.862A>G (p.Lys288Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005282619 SCV005941001 uncertain significance Cardiovascular phenotype 2025-02-22 criteria provided, single submitter clinical testing The p.K288E variant (also known as c.862A>G), located in coding exon 7 of the SPRED1 gene, results from an A to G substitution at nucleotide position 862. The lysine at codon 288 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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