Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Victorian Clinical Genetics Services, |
RCV004788390 | SCV005400238 | uncertain significance | Lymphatic malformation 6 | 2023-07-16 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as VUS-3A. Following criteria are met: 0103 - Loss of function and gain of function are known mechanisms of disease in this gene and are associated with lymphatic malformation 6 (LMPHM6; MIM#616843), and dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS; MIM#194380), respectively (OMIM). (I) 0108 - This gene is associated with both recessive and dominant disease. LMPHM6 has been reported in individuals with biallelic variants, while DHS has only been reported in individuals with heterozygous missense variants or inframe duplication variants with a gain of function mechanism (OMIM). (I) 0212 - Non-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 - Abnormal splicing is predicted but nucleotide is poorly conserved. (I) 0705 - No comparable splice variants have previous evidence for pathogenicity. (I) 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 (c.2248G>T; p.(Glu750*)) in a recessive disease. (SP) 1206 - This variant has been shown to be paternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |