ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.355-1062G>C

gnomAD frequency: 0.00003  dbSNP: rs1236436555
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics,University Clinic Freiburg RCV000722130 SCV000777908 likely pathogenic Waardenburg syndrome type 2 no assertion criteria provided research Our work describes a unique depigmentation phenotype in an Argentinean boy due to a MITF mutation. Our index patient was born to consanguineous parents (siblings) and thus is a homozygous carrier of the intronic mutation NM_000248.3:c.33+5G>C in the recognition context of the splice donor site specific to the melanocyte-specific M transcript variant of MITF. Several further family members are heterozygous carriers and presented a Waardenburg syndrome type 2A phenotype with typical variable expressivity.

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