ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.2237A>G (p.Asn746Ser)

gnomAD frequency: 0.00006  dbSNP: rs764032802
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969499 SCV002267465 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2021-09-01 criteria provided, single submitter clinical testing
GeneDx RCV004770330 SCV005377188 uncertain significance not provided 2023-11-16 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; Has not been previously published as pathogenic or benign to our knowledge

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