ClinVar Miner

Submissions for variant NM_005570.4(LMAN1):c.1356del (p.Asn452_Leu453insTer)

dbSNP: rs869312033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003398471 SCV004102954 pathogenic LMAN1-related disorder 2023-08-29 criteria provided, single submitter clinical testing The LMAN1 c.1356delC variant is predicted to result in premature protein termination (p.Leu453*). This variant in homozygous state was reported in two siblings affected with combined deficiency of factor V and factor VIII (Zhang et al. 2008. PubMed ID: 18391077). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in LMAN1 are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000008531 SCV000028739 pathogenic Factor V and factor VIII, combined deficiency of, type 1 2008-06-15 no assertion criteria provided literature only

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