ClinVar Miner

Submissions for variant NM_024663.4(NPEPL1):c.428G>A (p.Arg143His)

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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 RCV004838042 SCV005464469 uncertain significance not specified 2024-11-21 criteria provided, single submitter clinical testing The c.428G>A (p.R143H) alteration is located in exon 3 (coding exon 3) of the NPEPL1 gene. This alteration results from a G to A substitution at nucleotide position 428, causing the arginine (R) at amino acid position 143 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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