ClinVar Miner

Submissions for variant NM_017760.7(NCAPG2):c.3085G>A (p.Val1029Ile)

gnomAD frequency: 0.00021  dbSNP: rs199598836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202960 SCV000258116 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000202960 SCV003700460 likely benign not specified 2021-10-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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