ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)

dbSNP: rs1057516904
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411871 SCV000486412 likely pathogenic Mucolipidosis type IV 2016-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000598909 SCV000710242 pathogenic not provided 2018-08-21 criteria provided, single submitter clinical testing The c.1047dupA variant in the MCOLN1 gene has not been reported previously as a pathogenicvariant nor as a benign variant, to our knowledge. The c.1047dupA variant has been reported as likelypathogenic in ClinVar by a different clinical laboratory, but additional evidence is not available(ClinVar SCV000486412.1; Landrum et al., 2016). The c.1047dupA variant causes a frameshiftstarting with codon Phenylalanine 350, changes this amino acid to an Isoleucine residue, and creates apremature Stop codon at position 113 of the new reading frame, denoted p.Phe350IlefsX113. Thisvariant is predicted to cause loss of normal protein function either through protein truncation ornonsense-mediated mRNA decay. The c.1047dupA variant is not observed in large population cohorts(Lek et al., 2016). We interpret c.1047dupA as a pathogenic variant.
Ambry Genetics RCV000622495 SCV000741922 pathogenic Inborn genetic diseases 2016-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000411871 SCV001456130 pathogenic Mucolipidosis type IV 2020-09-16 no assertion criteria provided clinical testing

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