ClinVar Miner

Submissions for variant NM_000096.4(CP):c.716A>T (p.Tyr239Phe)

gnomAD frequency: 0.00024  dbSNP: rs145481253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592806 SCV000703943 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860175 SCV002125316 likely benign Deficiency of ferroxidase 2024-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975696 SCV005566978 uncertain significance Inborn genetic diseases 2024-07-23 criteria provided, single submitter clinical testing The c.716A>T (p.Y239F) alteration is located in exon 4 (coding exon 4) of the CP gene. This alteration results from a A to T substitution at nucleotide position 716, causing the tyrosine (Y) at amino acid position 239 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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