ClinVar Miner

Submissions for variant NM_002156.5(HSPD1):c.1607C>T (p.Ala536Val)

dbSNP: rs863224878
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000200544 SCV000255387 likely pathogenic Hereditary spastic paraplegia 13 2014-04-15 criteria provided, single submitter clinical testing
GeneDx RCV002225501 SCV002504540 pathogenic not provided 2022-04-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 25326637)
Labcorp Genetics (formerly Invitae), Labcorp RCV002517300 SCV003473020 uncertain significance Spastic paraplegia 2022-01-01 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 216941). This missense change has been observed in individual(s) with clinical features of HSPD1-related disorders (PMID: 25326637). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 536 of the HSPD1 protein (p.Ala536Val).

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