ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1261A>G (p.Thr421Ala)

gnomAD frequency: 0.00001  dbSNP: rs932396289
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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 RCV002037274 SCV002114067 uncertain significance not provided 2022-07-26 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 not expected to disrupt ABCC6 protein function. ClinVar contains an entry for this variant (Variation ID: 1345418). This variant has not been reported in the literature in individuals affected with ABCC6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 421 of the ABCC6 protein (p.Thr421Ala).
Fulgent Genetics, Fulgent Genetics RCV005014691 SCV005645499 uncertain significance Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2024-03-13 criteria provided, single submitter clinical testing

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