ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.7002_7005del (p.Glu2335fs)

dbSNP: rs768342700
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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 RCV000723119 SCV004370761 pathogenic not provided 2023-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with FREM2-related conditions. This variant is present in population databases (rs768342700, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu2335Profs*6) in the FREM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FREM2 are known to be pathogenic (PMID: 18203166, 26552811).
Gharavi Laboratory, Columbia University RCV000723119 SCV000854250 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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