ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)

gnomAD frequency: 0.00027  dbSNP: rs138338096
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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) RCV000269198 SCV000340570 uncertain significance not provided 2016-04-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000269198 SCV000884289 uncertain significance not provided 2018-05-09 criteria provided, single submitter clinical testing The p.Val970Ile variant (rs138338096) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.1 percent in the African population (identified on 29 out of 24,028 chromosomes) and has been reported to the ClinVar database (Variation ID: 286958). The valine at position 970 is moderately conserved considering 12 species and computational analyses of the p.Val970Ile variant on protein structure and function indicate a neutral effect (SIFT: tolerated, PolyPhen-2: benign). Altogether, there is not enough evidence to classify the p.Val970Ile variant with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV000269198 SCV001207205 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002521959 SCV003738515 uncertain significance Inborn genetic diseases 2021-09-27 criteria provided, single submitter clinical testing The c.2908G>A (p.V970I) alteration is located in exon 22 (coding exon 21) of the PCDH15 gene. This alteration results from a G to A substitution at nucleotide position 2908, causing the valine (V) at amino acid position 970 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828237 SCV002093090 uncertain significance Usher syndrome type 1F 2020-02-26 no assertion criteria provided clinical testing

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