ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)

gnomAD frequency: 0.00004  dbSNP: rs558224212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242765 SCV001415873 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 1604 of the PCDH15 protein (p.Arg1604Gly). This variant is present in population databases (rs558224212, 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: 967773). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002484337 SCV002783943 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2022-04-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034731 SCV004998841 uncertain significance Inborn genetic diseases 2023-11-29 criteria provided, single submitter clinical testing The c.4810A>G (p.R1604G) alteration is located in exon 33 (coding exon 32) of the PCDH15 gene. This alteration results from a A to G substitution at nucleotide position 4810, causing the arginine (R) at amino acid position 1604 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001829000 SCV002089193 uncertain significance Usher syndrome type 1F 2020-01-18 no assertion criteria provided clinical testing

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