ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)

dbSNP: rs2078085499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044287 SCV001208077 likely pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2021-04-02 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MUSK protein function. This variant has been observed in individual(s) with clinical features of congenital myasthenic syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 841962). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 821 of the MUSK protein (p.Leu821Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.
Revvity Omics, Revvity RCV003132163 SCV003817097 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing

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