ClinVar Miner

Submissions for variant NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)

gnomAD frequency: 0.00002  dbSNP: rs1441727203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002542923 SCV003023891 uncertain significance Familial aplasia of the vermis 2022-07-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 9 of the TMEM216 protein (p.Ala9Val). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 991117). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV003294177 SCV003976699 uncertain significance Inborn genetic diseases 2023-04-20 criteria provided, single submitter clinical testing The c.26C>T (p.A9V) alteration is located in exon 1 (coding exon 1) of the TMEM216 gene. This alteration results from a C to T substitution at nucleotide position 26, causing the alanine (A) at amino acid position 9 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279268 SCV001466351 uncertain significance Joubert syndrome 2 2020-04-14 no assertion criteria provided clinical testing

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