ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.1657A>G (p.Met553Val)

gnomAD frequency: 0.00002  dbSNP: rs753213086
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314277 SCV001504804 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 2022-06-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 553 of the MUSK protein (p.Met553Val). This variant is present in population databases (rs753213086, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MUSK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1015423). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002543639 SCV003532943 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.1657A>G (p.M553V) alteration is located in exon 13 (coding exon 13) of the MUSK gene. This alteration results from a A to G substitution at nucleotide position 1657, causing the methionine (M) at amino acid position 553 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132399 SCV003817092 uncertain significance not provided 2019-10-08 criteria provided, single submitter clinical testing

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