ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1862C>T (p.Ala621Val)

gnomAD frequency: 0.00005  dbSNP: rs777853943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054930 SCV001219289 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031737 SCV004935681 uncertain significance Inborn genetic diseases 2023-10-17 criteria provided, single submitter clinical testing The c.1862C>T (p.A621V) alteration is located in exon 14 (coding exon 14) of the MUSK gene. This alteration results from a C to T substitution at nucleotide position 1862, causing the alanine (A) at amino acid position 621 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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