ClinVar Miner

Submissions for variant NM_024663.4(NPEPL1):c.13G>T (p.Gly5Trp)

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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 RCV004644077 SCV005145890 uncertain significance not specified 2024-06-05 criteria provided, single submitter clinical testing The c.13G>T (p.G5W) alteration is located in exon 1 (coding exon 1) of the NPEPL1 gene. This alteration results from a G to T substitution at nucleotide position 13, causing the glycine (G) at amino acid position 5 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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