ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.2165C>T (p.Ala722Val)

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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 RCV002656230 SCV003544319 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.2174C>T (p.A725V) alteration is located in exon 11 (coding exon 11) of the CEL gene. This alteration results from a C to T substitution at nucleotide position 2174, causing the alanine (A) at amino acid position 725 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005050767 SCV005681401 uncertain significance Maturity-onset diabetes of the young type 8 2024-03-26 criteria provided, single submitter clinical testing

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