ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4774C>T (p.Pro1592Ser)

gnomAD frequency: 0.00004  dbSNP: rs773753270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244555 SCV001417784 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1592 of the PCDH15 protein (p.Pro1592Ser). This variant is present in population databases (rs773753270, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with PCDH15-related conditions. ClinVar contains an entry for this variant (Variation ID: 969253). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV005385010 SCV006047967 uncertain significance Inborn genetic diseases 2025-03-05 criteria provided, single submitter clinical testing The c.4774C>T (p.P1592S) alteration is located in exon 33 (coding exon 32) of the PCDH15 gene. This alteration results from a C to T substitution at nucleotide position 4774, causing the proline (P) at amino acid position 1592 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835210 SCV002089215 uncertain significance Usher syndrome type 1F 2020-02-21 no assertion criteria provided clinical testing

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