ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.3185A>G (p.Gln1062Arg)

dbSNP: rs2039339156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM RCV001290203 SCV001477293 uncertain significance Mandibular hypoplasia-deafness-progeroid syndrome 2020-06-01 criteria provided, single submitter clinical testing
Precision Medicine Center, Zhengzhou University RCV001290203 SCV002546239 likely pathogenic Mandibular hypoplasia-deafness-progeroid syndrome criteria provided, single submitter clinical testing PS2 + PM2_Supporting + PP4
GeneDx RCV004770007 SCV005376253 pathogenic not provided 2023-12-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 19296856, 36280868)

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