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
Invitae RCV002512824 SCV003439235 pathogenic Myofibrillar myopathy 3 2022-10-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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).
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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