ClinVar Miner

Submissions for variant NM_001379659.1(ZNF142):c.4631G>A (p.Arg1544Gln)

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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 RCV002660355 SCV003527121 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.4031G>A (p.R1344Q) alteration is located in exon 8 (coding exon 5) of the ZNF142 gene. This alteration results from a G to A substitution at nucleotide position 4031, causing the arginine (R) at amino acid position 1344 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003147833 SCV003835670 uncertain significance Neurodevelopmental disorder with impaired speech and hyperkinetic movements 2022-05-26 criteria provided, single submitter clinical testing

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