ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.3118_3121del (p.Asn1040fs)

dbSNP: rs751437333
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052145 SCV002318637 pathogenic Microcephaly 8, primary, autosomal recessive 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. (PVS1_VS). The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.0000478). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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