ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter)

gnomAD frequency: 0.00002  dbSNP: rs1057518717
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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 RCV001861453 SCV002235271 uncertain significance not provided 2022-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1319*) in the OBSL1 gene. However, it is currently unclear if variants that occur in this region of the gene cause disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of 3-M syndrome (PMID: 27959697). ClinVar contains an entry for this variant (Variation ID: 374350). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV000415461 SCV002780023 uncertain significance 3M syndrome 2 2021-07-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000415461 SCV000328835 pathogenic 3M syndrome 2 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in AGPAT2 (NM_006412.3:c.503G>A; NM_006412.3:c.492+4_492+7delAGTG; in trans) and OBSL1 (NM_015311.2:c.2474delT; NM_015311.2:c.3955C>T; in trans) in an individual with failure to thrive, hepatosplenomegaly, hypertriglyceridemia, dyslipidemia, elevated transaminases, non-specific lysosomal inclusions on liver biopsy and short stature.

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