ClinVar Miner

Submissions for variant NM_014951.3(ZNF365):c.13G>C (p.Ala5Pro)

dbSNP: rs371518407
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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 RCV004486720 SCV004985625 uncertain significance not specified 2023-10-02 criteria provided, single submitter clinical testing The c.13G>C (p.A5P) alteration is located in exon 2 (coding exon 1) of the ZNF365 gene. This alteration results from a G to C substitution at nucleotide position 13, causing the alanine (A) at amino acid position 5 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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