ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.143C>G (p.Ala48Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002375729 SCV002625533 uncertain significance Inborn genetic diseases 2024-04-08 criteria provided, single submitter clinical testing The c.401C>G (p.A134G) alteration is located in exon 2 (coding exon 2) of the ACD gene. This alteration results from a C to G substitution at nucleotide position 401, causing the alanine (A) at amino acid position 134 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102501 SCV003477846 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-12-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACD protein function. ClinVar contains an entry for this variant (Variation ID: 1737092). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (rs755166756, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 134 of the ACD protein (p.Ala134Gly).

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