ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.8963C>T (p.Thr2988Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003058767 SCV003448925 uncertain significance not provided 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2988 of the SRCAP protein (p.Thr2988Ile). This variant is present in population databases (rs369907818, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 2141869). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SRCAP 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.
Ambry Genetics RCV004963371 SCV005510567 uncertain significance Inborn genetic diseases 2024-11-21 criteria provided, single submitter clinical testing The c.8963C>T (p.T2988I) alteration is located in exon 34 (coding exon 32) of the SRCAP gene. This alteration results from a C to T substitution at nucleotide position 8963, causing the threonine (T) at amino acid position 2988 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005010922 SCV005643652 likely benign Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2024-02-12 criteria provided, single submitter clinical testing

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