ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5269_5280del (p.Ser1757_Pro1760del)

dbSNP: rs397517463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039748 SCV000063437 uncertain significance not specified 2011-11-15 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ser1757_Pro1760 del variant in PCDH15 has not been reported in the literature nor previously ide ntified by our laboratory. This variant is a 4 codon in-frame deletion in a prol ine-rich domain and is located in the last exon of the gene. The region covered by the deletion is not conserved across mammals or distant species; however, thi s information is insufficient to rule out pathogenicity. In summary, the clinica l significance of this variant cannot be determined with certainty at this time.
Invitae RCV001243117 SCV001416253 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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