ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile)

gnomAD frequency: 0.00264  dbSNP: rs17102066
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000267239 SCV000331162 benign not specified 2016-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268124 SCV000357984 likely benign Congenital Muscular Dystrophy, alpha-dystroglycan related 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000354770 SCV000357986 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000548277 SCV000565427 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26206375)
Genetic Services Laboratory, University of Chicago RCV000267239 SCV000596515 likely benign not specified 2019-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084521 SCV000649959 benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000548277 SCV001145188 likely benign not provided 2019-03-22 criteria provided, single submitter clinical testing
Baylor Genetics RCV001333958 SCV001526677 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2018-02-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Clinical Genetics, Academic Medical Center RCV000548277 SCV002034499 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000548277 SCV002037834 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001833303 SCV002089598 benign Muscle eye brain disease 2019-10-22 no assertion criteria provided clinical testing

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