Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210245 | SCV001381723 | uncertain significance | Majeed syndrome | 2022-08-15 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 940622). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. This variant is present in population databases (rs542116963, gnomAD 0.004%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 125 of the LPIN2 protein (p.Ser125Leu). |
Ambry Genetics | RCV002561732 | SCV003678261 | uncertain significance | Inborn genetic diseases | 2022-12-28 | criteria provided, single submitter | clinical testing | The c.374C>T (p.S125L) alteration is located in exon 4 (coding exon 3) of the LPIN2 gene. This alteration results from a C to T substitution at nucleotide position 374, causing the serine (S) at amino acid position 125 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |