ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.1571T>C (p.Met524Thr)

gnomAD frequency: 0.00001  dbSNP: rs774648368
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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 RCV003250198 SCV003964018 uncertain significance Inborn genetic diseases 2023-04-04 criteria provided, single submitter clinical testing The c.1571T>C (p.M524T) alteration is located in exon 1 (coding exon 1) of the ZMYND11 gene. This alteration results from a T to C substitution at nucleotide position 1571, causing the methionine (M) at amino acid position 524 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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