ClinVar Miner

Submissions for variant NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)

dbSNP: rs80359850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002512660 SCV003440645 pathogenic not provided 2023-06-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1740). This premature translational stop signal has been observed in individual(s) with ESCO2-related conditions (PMID: 16380922). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln202*) in the ESCO2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ESCO2 are known to be pathogenic (PMID: 15821733, 16380922).
OMIM RCV000001810 SCV000021966 pathogenic Roberts-SC phocomelia syndrome 2005-12-01 no assertion criteria provided literature only
GeneReviews RCV000001810 SCV000040806 not provided Roberts-SC phocomelia syndrome no assertion provided literature only

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