ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)

gnomAD frequency: 0.00072  dbSNP: rs117209107
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000335532 SCV000335938 benign not specified 2015-10-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000335532 SCV000613062 benign not specified 2016-12-13 criteria provided, single submitter clinical testing
Invitae RCV000556875 SCV000650621 benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-01-22 criteria provided, single submitter clinical testing
Mendelics RCV000190546 SCV001136527 benign Autosomal recessive limb-girdle muscular dystrophy type 2P 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001723761 SCV001950467 benign not provided 2018-12-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25503980, 29036200, 31180159)
Fulgent Genetics, Fulgent Genetics RCV000556875 SCV002795432 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2021-08-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001723761 SCV004147393 benign not provided 2022-10-01 criteria provided, single submitter clinical testing DAG1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003907668 SCV004727350 likely benign DAG1-related condition 2019-11-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000190546 SCV000245427 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2P 2015-01-20 no assertion criteria provided literature only

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