ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.1105del (p.His369fs)

dbSNP: rs759632078
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001295967 SCV001484920 uncertain significance not provided 2020-05-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TMEM5 gene (p.His369Thrfs*28). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 75 amino acids of the TMEM5 protein. This variant is present in population databases (rs759632078, ExAC 0.1%). This variant has not been reported in the literature in individuals with TMEM5-related 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.
GeneDx RCV001295967 SCV001764626 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 75 amino acids are lost and replaced with 27 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge

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