ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.5C>T (p.Ala2Val)

gnomAD frequency: 0.00004  dbSNP: rs760114539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Research, The Children's Hospital at Westmead RCV001089497 SCV001244742 uncertain significance Pontocerebellar hypoplasia type 6 criteria provided, single submitter research
GeneDx RCV002051916 SCV002319184 uncertain significance not provided 2022-03-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32313153, 32571458)

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