ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.2443G>T (p.Val815Leu)

dbSNP: rs551520537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530016 SCV000656579 likely benign Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002526728 SCV003603265 uncertain significance Inborn genetic diseases 2022-01-27 criteria provided, single submitter clinical testing The c.2443G>T (p.V815L) alteration is located in exon 15 (coding exon 15) of the MUSK gene. This alteration results from a G to T substitution at nucleotide position 2443, causing the valine (V) at amino acid position 815 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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