ClinVar Miner

Submissions for variant NM_001017361.3(KHDC3L):c.322_325del (p.Asp108fs)

dbSNP: rs606231234
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000023915 SCV000045206 pathogenic Hydatidiform mole, recurrent, 2 2013-09-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004758598 SCV005367159 pathogenic KHDC3L-related condition 2024-05-31 no assertion criteria provided clinical testing The KHDC3L c.322_325delGACT variant is predicted to result in a frameshift and premature protein termination (p.Asp108Ilefs*30). This variant has been reported in the homozygous or compound heterozygous state in individuals with recurrent hydatidiform moles or pregnancy loss (Parry et al. 2011. PubMed ID: 21885028; Reddy et al. 2012. PubMed ID: 23232697; Fatemi et al. 2021. PubMed ID: 33639414). This variant is reported in 0.0065% of alleles in individuals of South Asian descent in gnomAD. Frameshift variants in KHDC3L are expected to be pathogenic. This variant is interpreted as pathogenic.

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