ClinVar Miner

Submissions for variant NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg)

gnomAD frequency: 0.00004  dbSNP: rs778564417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333227 SCV001525751 uncertain significance Intellectual disability, autosomal recessive 56 2023-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035759 SCV003728165 uncertain significance not specified 2022-11-18 criteria provided, single submitter clinical testing The c.1133A>G (p.K378R) alteration is located in exon 9 (coding exon 9) of the ZC3H14 gene. This alteration results from a A to G substitution at nucleotide position 1133, causing the lysine (K) at amino acid position 378 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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