ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala)

gnomAD frequency: 0.00001  dbSNP: rs767130314
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001591705 SCV001815743 uncertain significance Floating-Harbor syndrome 2020-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002569126 SCV002972085 uncertain significance not provided 2022-11-03 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 SRCAP protein function. ClinVar contains an entry for this variant (Variation ID: 1213756). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. This variant is present in population databases (rs767130314, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1761 of the SRCAP protein (p.Gly1761Ala).

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