ClinVar Miner

Submissions for variant NM_006586.5(CNPY3):c.199G>A (p.Gly67Ser)

gnomAD frequency: 0.00005  dbSNP: rs375546787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329586 SCV001521066 uncertain significance Developmental and epileptic encephalopathy, 60 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035681 SCV003874117 uncertain significance not specified 2023-03-02 criteria provided, single submitter clinical testing The c.199G>A (p.G67S) alteration is located in exon 2 (coding exon 2) of the CNPY3 gene. This alteration results from a G to A substitution at nucleotide position 199, causing the glycine (G) at amino acid position 67 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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