ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.5309G>A (p.Trp1770Ter)

dbSNP: rs1566133616
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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 RCV003718285 SCV004509493 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp1770*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with cryptophthalmos (PMID: 30802441). ClinVar contains an entry for this variant (Variation ID: 625183). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000767224 SCV000897768 pathogenic Isolated cryptophthalmia 2019-04-10 no assertion criteria provided literature only

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