ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.406G>A (p.Val136Met)

gnomAD frequency: 0.00001  dbSNP: rs75668329
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596486 SCV000706098 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001325795 SCV001516800 uncertain significance Familial aplasia of the vermis 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 136 of the TMEM216 protein (p.Val136Met). This variant is present in population databases (rs75668329, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with TMEM216-related conditions. ClinVar contains an entry for this variant (Variation ID: 500240). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV005049613 SCV005683860 uncertain significance Joubert syndrome 2; Meckel syndrome, type 2 2024-04-09 criteria provided, single submitter clinical testing

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