ClinVar Miner

Submissions for variant NM_001243766.1(POMGNT1):c.1285-2A>G (rs386834012)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000375211 SCV000357989 uncertain significance Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 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.
Illumina Clinical Services Laboratory,Illumina RCV000292476 SCV000357990 likely pathogenic POMGNT1-Related Disorders 2017-04-27 criteria provided, single submitter clinical testing The POMGNT1 c.1285-2A>G variant occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. The c.1285-2A>G variant has been reported in three studies in which it is found in a total of three individuals with POMGNT1-related disorders, including in one in a homozygous state, in one in a compound heterozygous state, and in one in a heterozygous state in whom a second variant was not detected (Diesen et al. 2004; Biancheri et al. 2006; Mercuri et al. 2009). The c.1285-2A>G variant was absent from at least 125 controls but is reported at a frequency of 0.00002 in the European (non-Finnish) population of the Exome Aggregation Consortium. This frequency is based on one allele in an area of good sequence coverage so the variant is presumed to be rare. Based on the potential impact of splice acceptor variants and evidence from the literature, the c.1285-2A>G variant is classified as likely pathogenic for POMGNT1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049991 SCV000082400 probable-pathogenic Muscle eye brain disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Counsyl RCV000983991 SCV000800783 pathogenic Retinitis pigmentosa 76 2017-08-22 no assertion criteria provided clinical testing

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