ClinVar Miner

Submissions for variant NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) (rs200503833)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725058 SCV000333628 likely pathogenic not provided 2015-08-14 criteria provided, single submitter clinical testing
Invitae RCV000344285 SCV000766704 uncertain significance Ehlers-Danlos syndrome progeroid type 2017-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp13*) in the B4GALT7 gene. It is expected to result in an absent or disrupted protein product. While this variant is present in population databases (rs200503833), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with B4GALT7-related disease. ClinVar contains an entry for this variant (Variation ID: 282261). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in B4GALT7 cause disease. 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.

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