ClinVar Miner

Submissions for variant NM_001017995.3(SH3PXD2B):c.452C>T (p.Pro151Leu)

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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 and Genomic Medicine, Uniklinik RWTH Aachen RCV002292432 SCV002584945 uncertain significance Frank-Ter Haar syndrome 2022-10-17 criteria provided, single submitter clinical testing The variant is reported in the dbSNP database (dbSNP151, rs1246166974). It is listed in gnomAD/Exomes (v2.1.1) with a frequency of 0.000795% (2/251454). The variant has not been previously described in ClinVar or in the literature. Bioinformatic prediction programs evaluate the variant inconsistently (SIFT: deleterious, PolyPhen2: possibly damaging, MutationTaster: benign). In summary, the variant is to be considered as "variant of unknown significance" (ACMG criteria).

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