ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)

gnomAD frequency: 0.00048  dbSNP: rs145499180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001037665 SCV001201089 likely benign not provided 2024-10-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195201 SCV001365507 likely benign not specified 2020-01-14 criteria provided, single submitter clinical testing The p.Glu1682Lys variant in PCDH15 is classified as likely benign because it has been identified in 0.1% (35/24962) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org), and computational prediction tools predict that this variant does not impact the protein. ACMG/AMP Criteria applied: BS1_Supporting, BP4.
Ambry Genetics RCV004958370 SCV005465311 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.5044G>A (p.E1682K) alteration is located in exon 33 (coding exon 32) of the PCDH15 gene. This alteration results from a G to A substitution at nucleotide position 5044, causing the glutamic acid (E) at amino acid position 1682 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001272398 SCV001454383 uncertain significance Usher syndrome type 1F 2020-03-17 no assertion criteria provided clinical testing

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