ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.397A>G (p.Ile133Val)

gnomAD frequency: 0.00004  dbSNP: rs570136508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314135 SCV001504655 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002543637 SCV003687744 uncertain significance Inborn genetic diseases 2021-07-26 criteria provided, single submitter clinical testing The c.397A>G (p.I133V) alteration is located in exon 4 (coding exon 4) of the MUSK gene. This alteration results from a A to G substitution at nucleotide position 397, causing the isoleucine (I) at amino acid position 133 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132398 SCV003817079 uncertain significance not provided 2021-03-27 criteria provided, single submitter clinical testing

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