ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.924+8C>A

dbSNP: rs370406516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370663 SCV001567189 likely benign Hypohidrotic X-linked ectodermal dysplasia 2024-02-17 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001370663 SCV004805439 uncertain significance Hypohidrotic X-linked ectodermal dysplasia 2024-03-25 criteria provided, single submitter research
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001370663 SCV005399316 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2020-05-21 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Likely pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0109 - This gene is known to be associated with X-linked recessive disease. (N) 0110 - This gene is known to be associated with X-linked dominant disease. (N) 0212 - Non-canonical splice variant without proven consequence on splicing (no functional evidence available) (intron 7). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0309 - An alternative nucleotide change at the same position has been observed in gnomAD (2 heterozygotes, 0 homozygotes, 0 hemizygotes). (N) 0508 - In silico predictions for abnormal splicing are conflicting. (N) 0702 - Comparable splice variants, c.924+8 C>G and c.924+5G>A, have strong previous evidence for pathogenicity in patients with X-linked hypohidrotic ectodermal dysplasia (HED) (PMID:25339629; 11279189). (P) 0803 - Low previous evidence of pathogenicity in unrelated individuals. This variant has been reported in a family with HED (PMID:18231121). (P) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign

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