ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.5477C>T (p.Ser1826Leu)

gnomAD frequency: 0.00005  dbSNP: rs374858506
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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 RCV002017183 SCV002295694 uncertain significance not provided 2023-08-05 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: 1501065). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. This variant is present in population databases (rs374858506, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1826 of the SRCAP protein (p.Ser1826Leu).
Fulgent Genetics, Fulgent Genetics RCV002492318 SCV002787827 uncertain significance Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002642128 SCV003560062 uncertain significance Inborn genetic diseases 2021-08-31 criteria provided, single submitter clinical testing The c.5477C>T (p.S1826L) alteration is located in exon 25 (coding exon 23) of the SRCAP gene. This alteration results from a C to T substitution at nucleotide position 5477, causing the serine (S) at amino acid position 1826 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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