ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4671+1410A>G

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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 RCV004957031 SCV005470196 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.4919A>G (p.E1640G) alteration is located in exon 37 (coding exon 36) of the PCDH15 gene. This alteration results from a A to G substitution at nucleotide position 4919, causing the glutamic acid (E) at amino acid position 1640 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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