ClinVar Miner

Submissions for variant NM_173495.3(PTCHD1):c.542A>C (p.Lys181Thr)

dbSNP: rs1060499778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454174 SCV000538004 likely pathogenic Abnormal brain morphology criteria provided, single submitter research
3billion RCV001808828 SCV002058685 likely pathogenic Autism, susceptibility to, X-linked 4 2022-01-03 criteria provided, single submitter clinical testing Same nucleotide change resulting in same amino acid change has been previously reported to be associated with PTCHD1 related disorder (ClinVar ID: VCV000402218, PMID:26539891). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 33856728, PS3_S). It is not observed in the gnomAD v2.1.1 dataset (PM2_M).Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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