ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.1037C>G (p.Ala346Gly)

dbSNP: rs797044484
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics, Universidade de São Paulo RCV000190455 SCV000189629 pathogenic Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 2014-02-11 criteria provided, single submitter research The proband presents with EEC syndrome. Since the proband’s son does not have cleft lip/palate, his phenotype is similar to that of ADULT syndrome, which may not include clefting, breast hipoplasia or freckling. This clinical overlap could demonstrate that the distinctions between EEC and ADULT syndromes are somewhat artificial. The father of the proband allegedly presented only SHFM, without other manifestations. This could indicate that the mutation c.1037C>G might also be associated with nonsyndromic SHFM.

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