ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.8545G>A (p.Val2849Met)

dbSNP: rs147114700
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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 RCV001879408 SCV002144242 uncertain significance not provided 2024-09-23 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 2849 of the HSPG2 protein (p.Val2849Met). This variant is present in population databases (rs147114700, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HSPG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1374942). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Possibly Damaging". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Athena Diagnostics RCV001879408 SCV002770844 uncertain significance not provided 2022-04-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001879408 SCV003809376 uncertain significance not provided 2019-10-07 criteria provided, single submitter clinical testing

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