ClinVar Miner

Submissions for variant NM_021224.6(ZNF462):c.6601G>A (p.Gly2201Ser)

gnomAD frequency: 0.00002  dbSNP: rs1240557088
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266678 SCV002548741 uncertain significance Weiss-Kruszka syndrome 2021-07-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004965847 SCV005542622 uncertain significance Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.6601G>A (p.G2201S) alteration is located in exon 8 (coding exon 7) of the ZNF462 gene. This alteration results from a G to A substitution at nucleotide position 6601, causing the glycine (G) at amino acid position 2201 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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