ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)

gnomAD frequency: 0.00012  dbSNP: rs145037203
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000282912 SCV000345423 uncertain significance not provided 2016-09-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000282912 SCV000884288 uncertain significance not provided 2018-01-28 criteria provided, single submitter clinical testing The p.Asn174Ser variant (rs145037203) was reported in one Spanish patient with Usher type I syndrome, who also carried a CDH23 variant (Jaijo 2012). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.1 percent in the Latino population (identified on 37 out of 34,418 chromosomes), and has been reported to the ClinVar database (Variation ID: 290793). The asparagine at position 174 is moderately conserved considering 12 species (Alamut v2.10) and computational analyses of the p.Asn174Ser variant on protein structure and function indicate a deleterious effect (SIFT: damaging, MutationTaster: disease causing, PolyPhen-2: possibly damaging). Altogether, there is not enough evidence to classify the p.Asn174Ser variant with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV000282912 SCV001415808 likely benign not provided 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000282912 SCV002568650 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing Reported with a CDH23 variant on the same allele (in cis) in a patient with Usher syndrome in published literature (Jaijo et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22815625, 32483926)
Natera, Inc. RCV001276790 SCV001463339 uncertain significance Usher syndrome type 1F 2020-09-16 no assertion criteria provided clinical testing

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