ClinVar Miner

Submissions for variant NM_002181.4(IHH):c.484A>G (p.Lys162Glu)

dbSNP: rs1948841937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wanghongyan lab, Fudan University RCV001257075 SCV001190514 likely pathogenic Brachydactyly type A1 2020-03-23 criteria provided, single submitter clinical testing The p.Lys162Glu in IHH hasn't been reported before. We discovered it in one person from a Chinese cohort contains 1135 unrelated short stature patients. This is a maternal variant Inherited from his mother, who presented with short stature. This patient presented with the typical phenotype of BDA1(MIM 112500). Bone shortening was confined to the middle phalanges of the second and fifth digit. Cone-shaped epiphyses were discovered in the distal phalanges of the thumb and the third digit and the middle phalanges of the second and fifth digit. This variant was absent from ExAC, 1000 Genomes data, and 592 Chinese controls. The p. p.Lys162Glu was classified as "Likely Pathogenic" using the ACMG/AMP standards(PM1+PM2+PP2+PP3+PP4).

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