ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.383C>T (p.Ala128Val)

dbSNP: rs960508990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV001848620 SCV002106344 uncertain significance Type 2 diabetes mellitus 2019-09-05 criteria provided, single submitter clinical testing This variant has not been observed previously in our laboratory and is absent from both clinical and general population databases. This is a moderately conserved nucleotide position across species. Most computational tools predict this change is damaging.
Ambry Genetics RCV003264115 SCV003944715 uncertain significance Inborn genetic diseases 2023-03-31 criteria provided, single submitter clinical testing The c.392C>T (p.A131V) alteration is located in exon 4 (coding exon 4) of the CEL gene. This alteration results from a C to T substitution at nucleotide position 392, causing the alanine (A) at amino acid position 131 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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