ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.874T>C (p.Tyr292His)

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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 RCV005282610 SCV005940989 uncertain significance Cardiovascular phenotype 2025-02-09 criteria provided, single submitter clinical testing The p.Y292H variant (also known as c.874T>C), located in coding exon 7 of the SPRED1 gene, results from a T to C substitution at nucleotide position 874. The tyrosine at codon 292 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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