ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1038G>T (p.Glu346Asp)

gnomAD frequency: 0.00001  dbSNP: rs764142979
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001799995 SCV002044059 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 25537362)
Ambry Genetics RCV002541329 SCV003636617 uncertain significance Inborn genetic diseases 2022-09-06 criteria provided, single submitter clinical testing The c.1038G>T (p.E346D) alteration is located in exon 9 (coding exon 9) of the MUSK gene. This alteration results from a G to T substitution at nucleotide position 1038, causing the glutamic acid (E) at amino acid position 346 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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