ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.247_250del (p.Asn83fs)

dbSNP: rs1057519287
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kids Research, The Children's Hospital at Westmead RCV000415548 SCV001244725 pathogenic Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003558371 SCV004291777 pathogenic not provided 2023-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn83Hisfs*4) in the MECR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MECR are known to be pathogenic (PMID: 27817865). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive dystonia (PMID: 27817865). ClinVar contains an entry for this variant (Variation ID: 374883). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000415548 SCV000493969 pathogenic Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2024-01-08 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755161 SCV000882983 likely pathogenic Optic atrophy; Childhood Onset Dystonias 2016-12-01 no assertion criteria provided research

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