ClinVar Miner

Submissions for variant NM_078629.4(MSL3):c.1466+1G>A

dbSNP: rs1601774648
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995808 SCV001150168 likely pathogenic Basilicata-Akhtar syndrome 2020-01-16 criteria provided, single submitter clinical testing
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV000995808 SCV002557053 pathogenic Basilicata-Akhtar syndrome 2022-02-02 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with Basilicata-Akhtar syndrome (MIM#301032). (I) 0110 - This gene is associated with X-linked dominant 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) 0508 - In silico predictions for abnormal splicing are inconclusive. (I) 0600 - Variant is located in the annotated MRG domain (Uniprot). (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported in two unrelated de novo individuals with Basilicata-Akhtar syndrome (ClinVar, PMID: 33173220). (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign

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