ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.853C>G (p.Pro285Ala)

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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 RCV004675146 SCV005172919 uncertain significance Cardiovascular phenotype 2024-04-25 criteria provided, single submitter clinical testing The p.P285A variant (also known as c.853C>G), located in coding exon 7 of the SPRED1 gene, results from a C to G substitution at nucleotide position 853. The proline at codon 285 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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