ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.658G>A (p.Val220Met)

dbSNP: rs150508741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001800845 SCV002045445 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001800845 SCV002781081 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-30 criteria provided, single submitter clinical testing
Invitae RCV001800845 SCV003246393 uncertain significance Mucopolysaccharidosis, MPS-III-A 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 220 of the SGSH protein (p.Val220Met). This variant is present in population databases (rs150508741, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. ClinVar contains an entry for this variant (Variation ID: 559104). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SGSH protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000676153 SCV000801904 uncertain significance not provided 2017-05-01 no assertion criteria provided clinical testing

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