ClinVar Miner

Submissions for variant NM_019035.5(PCDH18):c.3217C>T (p.Leu1073Phe)

gnomAD frequency: 0.00001  dbSNP: rs1207963575
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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 RCV004115125 SCV003593726 uncertain significance not specified 2021-10-29 criteria provided, single submitter clinical testing The c.3217C>T (p.L1073F) alteration is located in exon 4 (coding exon 4) of the PCDH18 gene. This alteration results from a C to T substitution at nucleotide position 3217, causing the leucine (L) at amino acid position 1073 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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