ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)

gnomAD frequency: 0.00001  dbSNP: rs200226791
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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 RCV001244549 SCV001417777 likely benign not provided 2024-05-05 criteria provided, single submitter clinical testing
GeneDx RCV001244549 SCV004170908 uncertain significance not provided 2023-04-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004034792 SCV004998819 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.1836C>A (p.S612R) alteration is located in exon 15 (coding exon 14) of the PCDH15 gene. This alteration results from a C to A substitution at nucleotide position 1836, causing the serine (S) at amino acid position 612 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835206 SCV002088610 uncertain significance Usher syndrome type 1F 2020-02-26 no assertion criteria provided clinical testing

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