ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)

dbSNP: rs121908461
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516381 SCV000614145 likely pathogenic not provided 2017-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512824 SCV003439235 pathogenic Myofibrillar myopathy 3 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 39 of the MYOT protein (p.Ser39Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with MYOT-related conditions (PMID: 16380616, 22106715). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 5839). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV002512824 SCV004238301 likely pathogenic Myofibrillar myopathy 3 2023-08-14 criteria provided, single submitter clinical testing
OMIM RCV002512824 SCV000026378 pathogenic Myofibrillar myopathy 3 2005-12-27 no assertion criteria provided literature only

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