ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)

gnomAD frequency: 0.00004  dbSNP: rs769926034
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001263472 SCV001441550 pathogenic Fraser syndrome 2 2020-10-23 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV001263472 SCV001573078 pathogenic Fraser syndrome 2 2020-09-10 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV001263472 SCV002576352 pathogenic Fraser syndrome 2 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486009 SCV002776409 likely pathogenic Isolated cryptophthalmia; Fraser syndrome 2 2021-10-14 criteria provided, single submitter clinical testing
Invitae RCV003698855 SCV004458905 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1722Valfs*5) 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 present in population databases (rs769926034, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with FREM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 983512). For these reasons, this variant has been classified as Pathogenic.

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