ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4568G>A (p.Ser1523Asn)

dbSNP: rs1377421029
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Total submissions: 1
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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 RCV000615987 SCV000731526 likely benign not specified 2017-03-16 criteria provided, single submitter clinical testing p.Ser1523Asn in exon 33 of PCDH15: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, >5 mammals have a asparagine (Asn) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not sugg est a high likelihood of impact to the protein.

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