Submissions for variant NM_001358530.2(MOCS1):c.306_309dup (p.Thr104fs)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003397845	SCV004112120	likely pathogenic	MOCS1-related disorder	2023-04-19	criteria provided, single submitter	clinical testing	The MOCS1 c.306_309dupGACC variant is predicted to result in a frameshift and premature protein termination (p.Thr104Aspfs*86). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in MOCS1 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Baylor Genetics	RCV003466075	SCV004193260	likely pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	2023-02-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003466075	SCV004557873	pathogenic	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	2022-12-04	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Thr104Aspfs*86) in the MOCS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MOCS1 are known to be pathogenic (PMID: 12754701, 16021469). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MOCS1-related conditions. For these reasons, this variant has been classified as Pathogenic.