ClinVar Miner

Submissions for variant NM_014951.3(ZNF365):c.575C>A (p.Ala192Glu)

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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 RCV004689107 SCV005183760 uncertain significance not specified 2024-03-21 criteria provided, single submitter clinical testing The c.575C>A (p.A192E) alteration is located in exon 2 (coding exon 1) of the ZNF365 gene. This alteration results from a C to A substitution at nucleotide position 575, causing the alanine (A) at amino acid position 192 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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