ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.46C>A (p.Leu16Met)

gnomAD frequency: 0.00044  dbSNP: rs200365807
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001314173 SCV001504697 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 102 of the ACD protein (p.Leu102Met). This variant is present in population databases (rs200365807, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with ACD-related conditions. ClinVar contains an entry for this variant (Variation ID: 1015326). 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 with a positive predictive value of 80%. 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.
Ambry Genetics RCV002447329 SCV002754022 uncertain significance Inborn genetic diseases 2023-07-25 criteria provided, single submitter clinical testing The c.304C>A (p.L102M) alteration is located in exon 1 (coding exon 1) of the ACD gene. This alteration results from a C to A substitution at nucleotide position 304, causing the leucine (L) at amino acid position 102 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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