ClinVar Miner

Submissions for variant NM_173685.4(NSMCE2):c.346del (p.Ser116fs)

dbSNP: rs757613817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002523902 SCV003296140 pathogenic not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser116Leufs*18) in the NSMCE2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NSMCE2 are known to be pathogenic (PMID: 25105364, 26443207). This variant is present in population databases (rs757613817, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with clinical features of NSMCE2-related conditions (PMID: 25105364). ClinVar contains an entry for this variant (Variation ID: 372285). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000412505 SCV005684978 pathogenic Seckel syndrome 10 2025-01-24 criteria provided, single submitter clinical testing
OMIM RCV000412505 SCV000490360 pathogenic Seckel syndrome 10 2016-12-15 no assertion criteria provided literature only

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