ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.107G>T (p.Arg36Leu) (rs1264172545)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) RCV000855534 SCV000996577 likely pathogenic Mucopolysaccharidosis type 7 2019-07-10 no assertion criteria provided clinical testing It is a consanguinea couple, both are cousins, with a history of fetal loss from hydrops a year ago. In its second pregnancy the fetus is also affected by fetal hydrops. NGS massive sequencing study is performed on the parents' blood sample and fetal amniotic fluid. The parents are carriers in heterozygosis of the variant NM_000181.3 (GUSB): c.107G> T (p.Arg36Leu) (GUSB; 611499) and the fetus in homozygosis. A study of beta glucuronidase activity in amniotic fluid and in fetal blood lymphocytes is performed, resulting in no detection of beta glucuronidase activity in the two samples. The variant is not found in GnomAD exomes dayabases and in GnomAD genomes databases either. In silico analysis shows a Pathogenic computational verdict because 9 were pathogenic predictions from DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MVP, MutationAssessor, MutationTaster, REVEL and SIFT versus 1 benign prediction from PrimateAI.

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