ClinVar Miner

Submissions for variant NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn)

gnomAD frequency: 0.00001  dbSNP: rs1178039732
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001372322 SCV001568951 uncertain significance Familial infantile myasthenia 2020-04-08 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with CHAT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with asparagine at codon 604 of the CHAT protein (p.Ile604Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine.
Ambry Genetics RCV002550153 SCV003589961 uncertain significance Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.1811T>A (p.I604N) alteration is located in exon 13 (coding exon 13) of the CHAT gene. This alteration results from a T to A substitution at nucleotide position 1811, causing the isoleucine (I) at amino acid position 604 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity Omics RCV001372322 SCV003833234 uncertain significance Familial infantile myasthenia 2019-09-28 criteria provided, single submitter clinical testing

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