ClinVar Miner

Submissions for variant NM_024663.4(NPEPL1):c.571G>A (p.Glu191Lys)

gnomAD frequency: 0.00001  dbSNP: rs752306713
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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 RCV004102966 SCV003566730 uncertain significance not specified 2021-07-20 criteria provided, single submitter clinical testing The c.571G>A (p.E191K) alteration is located in exon 4 (coding exon 4) of the NPEPL1 gene. This alteration results from a G to A substitution at nucleotide position 571, causing the glutamic acid (E) at amino acid position 191 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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