ClinVar Miner

Submissions for variant NM_198576.4(AGRN):c.1891G>A (p.Val631Met)

gnomAD frequency: 0.00001  dbSNP: rs748716996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651368 SCV000773219 uncertain significance Congenital myasthenic syndrome 8 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 631 of the AGRN protein (p.Val631Met). 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. This variant has not been reported in the literature in individuals affected with AGRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 541160). 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 C0"). 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 RCV003243239 SCV003940737 uncertain significance Inborn genetic diseases 2023-03-24 criteria provided, single submitter clinical testing The c.1891G>A (p.V631M) alteration is located in exon 10 (coding exon 10) of the AGRN gene. This alteration results from a G to A substitution at nucleotide position 1891, causing the valine (V) at amino acid position 631 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV000651368 SCV005328769 likely benign Congenital myasthenic syndrome 8 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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