ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup)

dbSNP: rs886063171
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000261591 SCV000475314 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000300363 SCV000475315 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367005 SCV000475316 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523704 SCV003521536 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-09-19 criteria provided, single submitter clinical testing This variant, c.125_130dup, results in the insertion of 2 amino acid(s) of the TMEM67 protein (p.Pro42_Phe43dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TMEM67-related conditions. ClinVar contains an entry for this variant (Variation ID: 363918). 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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