ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)

gnomAD frequency: 0.00994  dbSNP: rs74374973
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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081801 SCV000113736 benign not specified 2013-07-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081801 SCV000152347 benign not specified 2015-08-23 criteria provided, single submitter clinical testing
GeneDx RCV000081801 SCV000196863 benign not specified 2016-11-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000081801 SCV000307101 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710195 SCV000614740 likely benign not provided 2020-04-08 criteria provided, single submitter clinical testing
Invitae RCV001082774 SCV000649960 benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000671438 SCV000796414 likely benign Muscle eye brain disease 2017-12-13 criteria provided, single submitter clinical testing
Mendelics RCV000671438 SCV001135280 likely benign Muscle eye brain disease 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000004204 SCV001254092 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001097781 SCV001254093 uncertain significance Congenital Muscular Dystrophy, alpha-dystroglycan related 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001449938 SCV001653392 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579237 SCV001806695 likely benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000004204 SCV001806696 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579238 SCV001806697 likely benign Retinitis pigmentosa 76 2021-07-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000081801 SCV002050986 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710195 SCV002821397 benign not provided 2024-07-01 criteria provided, single submitter clinical testing POMGNT1: BS1, BS2
OMIM RCV000004204 SCV000024370 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O 2008-11-01 no assertion criteria provided literature only
Natera, Inc. RCV000671438 SCV001464157 benign Muscle eye brain disease 2020-01-06 no assertion criteria provided clinical testing

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