Submissions for variant NM_020533.3(MCOLN1):c.608del (p.Pro203fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Myriad Genetics, Inc.	RCV002306886	SCV002603978	likely pathogenic	Mucolipidosis type IV	2022-04-13	criteria provided, single submitter	clinical testing	NM_020533.2(MCOLN1):c.608delC(P203Rfs*35) is expected to be pathogenic in the context of mucolipidosis IV. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MCOLN1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002306886	SCV004309431	pathogenic	Mucolipidosis type IV	2023-07-25	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Pro203Argfs*35) in the MCOLN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCOLN1 are known to be pathogenic (PMID: 11030752, 11317355). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1725915). For these reasons, this variant has been classified as Pathogenic.