ClinVar Miner

Submissions for variant NM_003094.4(SNRPE):c.1A>G (p.Met1Val)

dbSNP: rs587776924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002508190 SCV002817729 pathogenic not provided 2022-06-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Initiation codon variant in a gene for which loss of function is not a known mechanism of disease; This variant is associated with the following publications: (PMID: 23246290, 33792916)
3billion RCV000032701 SCV004013508 likely pathogenic Hypotrichosis 11 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Start-lost: reinitiation of translation may occur at a downstream alternate start codon but still result in a loss or disruption of normal protein function (PMID:. 23246290). The variant has been reported to co-segregate with the disease in at least 5 similarly affected relatives/individuals in the same family or similarly affected unrelated families (PMID: 23246290). The variant has been reported to be associated with SNRPE related disorder (ClinVar ID: VCV000039505 / PMID: 23246290). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000032701 SCV000056464 pathogenic Hypotrichosis 11 2013-01-10 no assertion criteria provided literature only

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