ClinVar Miner

Submissions for variant NM_005392.4(PHF2):c.1923C>G (p.Asn641Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127322 SCV003803885 likely benign Autism spectrum disorder 2022-04-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004837880 SCV005473503 uncertain significance not specified 2024-11-08 criteria provided, single submitter clinical testing The c.1923C>G (p.N641K) alteration is located in exon 14 (coding exon 14) of the PHF2 gene. This alteration results from a C to G substitution at nucleotide position 1923, causing the asparagine (N) at amino acid position 641 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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