ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn)

gnomAD frequency: 0.00003  dbSNP: rs768345011
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195424 SCV000250741 uncertain significance not provided 2024-08-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000644029 SCV000765717 uncertain significance Arterial tortuosity syndrome 2022-05-10 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. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 468 of the SLC2A10 protein (p.Asp468Asn). This variant is present in population databases (rs768345011, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SLC2A10-related conditions. ClinVar contains an entry for this variant (Variation ID: 213750). 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 SLC2A10 protein function.
Ambry Genetics RCV002390520 SCV002702434 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-11-20 criteria provided, single submitter clinical testing The c.1402G>A (p.D468N) alteration is located in exon 3 (coding exon 3) of the SLC2A10 gene. This alteration results from a G to A substitution at nucleotide position 1402, causing the aspartic acid (D) at amino acid position 468 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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