ClinVar Miner

Submissions for variant NC_000016.10:g.88835270_88835272TGT[1]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001093708 SCV001190356 likely pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing A compound heterozygous deletion variation in exon 8 of the GALNS gene that results in the premature termination of the protein at codon 280 was detected. The observed variant c.839_841delACA (p.Asn280del) has not been reported in the 1000 genomes, gnomAD and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.

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