ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.604G>A (p.Gly202Arg)

gnomAD frequency: 0.00003  dbSNP: rs771668001
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325952 SCV001516964 uncertain significance not provided 2021-11-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 202 of the TMEM5 protein (p.Gly202Arg). This variant is present in population databases (rs771668001, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TMEM5-related conditions. ClinVar contains an entry for this variant (Variation ID: 639854). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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