ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2978C>T (p.Ser993Phe)

dbSNP: rs2514508409
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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 RCV002442164 SCV002746220 uncertain significance Cardiovascular phenotype 2022-02-11 criteria provided, single submitter clinical testing The p.S993F variant (also known as c.2978C>T), located in coding exon 24 of the JAG1 gene, results from a C to T substitution at nucleotide position 2978. The serine at codon 993 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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