ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.121_123del (p.Leu41del)

dbSNP: rs2124066296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001375841 SCV004048019 uncertain significance Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing The inframe deletion variant p.R4Q in LIPA (NM_000235.4) in IDS gene has been submitted to ClinVar as Likely Pathogenic, but no details are available for independent assessment. It has not been reported in affected individuals. The p.Leu41del variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This p.Leu41del causes deletion of amino acid Leucine at position 41. Since this inframe deletion/insertion is not expected to cause protein truncation, the above variant has been classified as Variant of Uncertain Significance (VUS).
Pediatrics, All India Institute of Medical Sciences, New Delhi RCV001375841 SCV001572613 likely pathogenic Mucopolysaccharidosis, MPS-II 2014-05-01 no assertion criteria provided research The variant c.121_123delCTC (p.L41del) was found to be a small in-frame deletion, where the peptide sequence gets shortened by an aliphatic nonpolar neutral amino acid, Leucine at 41 position. It was detected in the hemizygous condition in one of the patients with sever MPS-2 phenotype from Uttarpradesh state of India.

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