ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1215G>A (p.Met405Ile)

gnomAD frequency: 0.00010  dbSNP: rs141238609
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593374 SCV000701516 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV000704466 SCV000833417 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 405 of the DAG1 protein (p.Met405Ile). This variant is present in population databases (rs141238609, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with DAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 497180). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002530967 SCV003614702 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.1215G>A (p.M405I) alteration is located in exon 3 (coding exon 2) of the DAG1 gene. This alteration results from a G to A substitution at nucleotide position 1215, causing the methionine (M) at amino acid position 405 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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