ClinVar Miner

Submissions for variant NM_018475.5(TMEM165):c.185G>T (p.Gly62Val)

dbSNP: rs1475649772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003531571 SCV004297699 uncertain significance TMEM165-congenital disorder of glycosylation 2023-07-06 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 62 of the TMEM165 protein (p.Gly62Val). This variant is not present in population databases (gnomAD no frequency). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TMEM165-related conditions.

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