ClinVar Miner

Submissions for variant NM_001077525.3(MTMR14):c.199C>T (p.Arg67Ter)

dbSNP: rs754777692
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329564 SCV001521037 likely pathogenic Autosomal dominant centronuclear myopathy 2019-08-27 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV003698861 SCV004458862 uncertain significance not provided 2023-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg67*) in the MTMR14 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MTMR14 cause disease. This variant is present in population databases (rs754777692, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MTMR14-related conditions. ClinVar contains an entry for this variant (Variation ID: 1028507). 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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