ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.149A>T (p.His50Leu)

gnomAD frequency: 0.00108  dbSNP: rs138518139
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000414733 SCV000613705 likely benign not specified 2016-11-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757382 SCV000885583 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing
Invitae RCV000757382 SCV001047855 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000757382 SCV001768218 uncertain significance not provided 2021-06-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533)
Revvity Omics, Revvity RCV000757382 SCV003809226 uncertain significance not provided 2020-04-02 criteria provided, single submitter clinical testing
GeneDx RCV000414733 SCV000491720 uncertain significance not specified 2016-11-22 flagged submission clinical testing The H50L variant in the HSPG2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state, the NHLBI ESP Exome Sequencing Project reports H50L was observed in 12/4406 (0.27%) alleles from individuals of African American background, indicating it may be a rare variant in this population. The H50L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret H50Las a variant of uncertain significance.

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