ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.782A>G (p.Asn261Ser)

gnomAD frequency: 0.00047  dbSNP: rs377605009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081948 SCV000655313 likely benign Polyglucosan body myopathy type 1 2025-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000560733 SCV001153406 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000560733 SCV001985680 uncertain significance not provided 2024-01-17 criteria provided, single submitter clinical testing Observed in the homozygous state in a fetus with dilated heart and somewhat tortuous PDA who was also found to have variants in additional genes (PMID: 36068917); 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: 36068917)
PreventionGenetics, part of Exact Sciences RCV003952866 SCV004770995 likely benign RBCK1-related disorder 2023-10-10 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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