ClinVar Miner

Submissions for variant NM_001110354.2(ZP3):c.13T>G (p.Tyr5Asp)

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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 RCV004195780 SCV003702162 uncertain significance not specified 2022-08-30 criteria provided, single submitter clinical testing The c.13T>G (p.Y5D) alteration is located in exon 1 (coding exon 1) of the ZP3 gene. This alteration results from a T to G substitution at nucleotide position 13, causing the tyrosine (Y) at amino acid position 5 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003936672 SCV004752885 likely benign ZP3-related disorder 2019-06-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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