ClinVar Miner

Submissions for variant NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn)

dbSNP: rs1008156537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533226 SCV000644934 uncertain significance Congenital myasthenic syndrome 5 2022-03-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 388 of the COLQ protein (p.Asp388Asn). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: "Not Available"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 468340). This variant is also known as p.Asp354Asn. This missense change has been observed in individual(s) with clinical features of COLQ-related conditions (PMID: 31345272).
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust RCV000533226 SCV000926215 likely pathogenic Congenital myasthenic syndrome 5 2019-05-03 no assertion criteria provided clinical testing

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