ClinVar Miner

Submissions for variant NM_024721.5(ZFHX4):c.6964C>T (p.Pro2322Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004686802 SCV005183976 uncertain significance not specified 2024-03-28 criteria provided, single submitter clinical testing The c.6964C>T (p.P2322S) alteration is located in exon 10 (coding exon 9) of the ZFHX4 gene. This alteration results from a C to T substitution at nucleotide position 6964, causing the proline (P) at amino acid position 2322 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003899546 SCV004712318 likely benign ZFHX4-related disorder 2023-06-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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