ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.409G>A (p.Ala137Thr)

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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 RCV005275973 SCV005940971 uncertain significance Cardiovascular phenotype 2025-01-17 criteria provided, single submitter clinical testing The p.A137T variant (also known as c.409G>A), located in coding exon 4 of the SPRED1 gene, results from a G to A substitution at nucleotide position 409. The alanine at codon 137 is replaced by threonine, an amino acid with 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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