ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.250_252del (p.Lys84del)

dbSNP: rs797045144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000190903 SCV002298144 pathogenic Dyskeratosis congenita, autosomal dominant 6 2022-08-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects ACD function (PMID: 25205116, 25233904, 27807141). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 208983). This variant has been observed in individual(s) with clinical features of dyskeratosis congenita (PMID: 25205116, 25233904, 31515401; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.508_510del, results in the deletion of 1 amino acid(s) of the ACD protein (p.Lys170del), but otherwise preserves the integrity of the reading frame.
OMIM RCV000190903 SCV000245777 pathogenic Dyskeratosis congenita, autosomal dominant 6 2014-10-30 no assertion criteria provided literature only
OMIM RCV000190904 SCV000245778 pathogenic Dyskeratosis congenita, autosomal recessive 7 2014-10-30 no assertion criteria provided literature only
GeneReviews RCV000190903 SCV000282031 not provided Dyskeratosis congenita, autosomal dominant 6 no assertion provided literature only

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