ClinVar Miner

Submissions for variant NM_017849.4(TMEM127):c.63C>G (p.Ser21Arg)

dbSNP: rs1573977946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201544 SCV001372620 uncertain significance Hereditary pheochromocytoma-paraganglioma 2019-06-29 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with TMEM127-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces serine with arginine at codon 21 of the TMEM127 protein (p.Ser21Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.

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