ClinVar Miner

Submissions for variant NM_000235.4(LIPA):c.1032C>G (p.His344Gln)

dbSNP: rs779601441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731569 SCV000859407 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855763 SCV002200434 uncertain significance Wolman disease 2021-10-22 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 595887). This variant has not been reported in the literature in individuals affected with LIPA-related conditions. This variant is present in population databases (rs779601441, ExAC 0.03%). This sequence change replaces histidine with glutamine at codon 344 of the LIPA protein (p.His344Gln). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and glutamine.
Ambry Genetics RCV002388367 SCV002698371 likely benign Cardiovascular phenotype 2022-01-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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