ClinVar Miner

Submissions for variant NM_004836.7(EIF2AK3):c.1195T>C (p.Ser399Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004979589 SCV005576944 uncertain significance Inborn genetic diseases 2024-11-25 criteria provided, single submitter clinical testing The c.1195T>C (p.S399P) alteration is located in exon 7 (coding exon 7) of the EIF2AK3 gene. This alteration results from a T to C substitution at nucleotide position 1195, causing the serine (S) at amino acid position 399 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005038894 SCV005661193 uncertain significance Wolcott-Rallison dysplasia 2024-04-15 criteria provided, single submitter clinical testing

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