ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.814G>A (p.Ala272Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003596251 SCV004244516 likely pathogenic Intellectual developmental disorder, autosomal dominant 64 2023-11-28 criteria provided, single submitter clinical testing PS2, PM2
Ambry Genetics RCV004963682 SCV005544201 uncertain significance Inborn genetic diseases 2024-12-06 criteria provided, single submitter clinical testing The c.814G>A (p.A272T) alteration is located in exon 6 (coding exon 6) of the ZNF292 gene. This alteration results from a G to A substitution at nucleotide position 814, causing the alanine (A) at amino acid position 272 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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