ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.1981_1982delinsT (p.Ala661fs)

dbSNP: rs2130735328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics laboratory, Necker Hospital RCV001807678 SCV002037151 likely pathogenic Enlarged kidney; Multiple renal cysts; Anhydramnios 2021-12-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005213597 SCV005852579 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of TMEM67-related conditions (PMID: 35005812). This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala661Serfs*5) in the TMEM67 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449, 23559409).

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