ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.488A>G (p.Asn163Ser)

gnomAD frequency: 0.00009  dbSNP: rs370512338
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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 RCV001064229 SCV001229116 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 249 of the ACD protein (p.Asn249Ser). This variant is present in population databases (rs370512338, gnomAD 0.03%). This missense change has been observed in individual(s) with cutaneous malignant melanoma and/or osteosarcoma (PMID: 25505254, 32191290). ClinVar contains an entry for this variant (Variation ID: 858372). 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 not expected to disrupt ACD protein function with a negative 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.
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine RCV004564545 SCV005049652 pathogenic Long telomere syndrome 2023-04-01 no assertion criteria provided research

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