ClinVar Miner

Submissions for variant NM_017760.7(NCAPG2):c.545A>G (p.Asp182Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004369781 SCV004972186 uncertain significance not specified 2024-03-04 criteria provided, single submitter clinical testing The c.545A>G (p.D182G) alteration is located in exon 6 (coding exon 5) of the NCAPG2 gene. This alteration results from a A to G substitution at nucleotide position 545, causing the aspartic acid (D) at amino acid position 182 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003916902 SCV004728314 likely benign NCAPG2-related disorder 2022-02-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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