ClinVar Miner

Submissions for variant NM_001080467.3(MYO5B):c.5313+1G>C

dbSNP: rs1555793103
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000578197 SCV000680016 likely pathogenic Congenital microvillous atrophy 2022-02-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Likely pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with diarrhea 2, with microvillus atrophy (MIM#251850). (I) 0106 - This gene is associated with autosomal recessive disease. (I) 0211 - Canonical splice site variant without proven consequence on splicing (no functional evidence available). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0505 - Abnormal splicing is predicted by in silico tools and affected nucleotide is highly conserved. (SP) 0704 - Another canonical splice region variant comparable to the one identified in this case has limited previous evidence for pathogenicity. The variant c.5313+1G>A has been reported as pathogenic in Global Variome shared LOVD. (SP) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1201 - Heterozygous variant detected in trans with a second pathogenic heterozygous variant (p.Thr1636Profs*26) in a recessive disease. (SP) 1205 - This variant has been shown to be maternally inherited. (I)

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