ClinVar Miner

Submissions for variant NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)

gnomAD frequency: 0.00003  dbSNP: rs374155761
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995383 SCV001149512 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000722149 SCV002767109 uncertain significance Myasthenic syndrome, congenital, 24, presynaptic 2020-05-26 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as 3C-VUS. Following criteria are met: 0105 - The mechanism of disease for this gene is not clearly established. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0200 - Variant is predicted to result in a missense amino acid change from tyrosine to cysteine (exon 2). (N) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (63 heterozygotes, 1 homozygote). (P) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools or highly conserved with a major amino acid change. (P) 0600 - Variant is located in an annotated domain or motif. In myosin head_motor domain (NCBI, PDB, DECIPHER) (N) 0705 - No comparable variants have previous evidence for pathogenicity. (N) 0808 - Previous reports of pathogenicity are conflicting. 1x VUS in ClinVar and seen in a patient cHet with p.(Gly2282Glu). (PMID: 26752647) (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign
OMIM RCV000722149 SCV000854566 pathogenic Myasthenic syndrome, congenital, 24, presynaptic 2018-11-29 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001007781 SCV001167465 uncertain significance Flexion contracture no assertion criteria provided research

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