ClinVar Miner

Submissions for variant NM_006929.5(SKIC2):c.3252G>A (p.Met1084Ile)

gnomAD frequency: 0.00048  dbSNP: rs58092713
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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 RCV001297112 SCV001486098 uncertain significance not provided 2022-09-14 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1084 of the SKIV2L protein (p.Met1084Ile). This variant is present in population databases (rs58092713, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with SKIV2L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1000909). 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. 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.
Ambry Genetics RCV004036058 SCV004950923 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.3252G>A (p.M1084I) alteration is located in exon 26 (coding exon 26) of the SKIV2L gene. This alteration results from a G to A substitution at nucleotide position 3252, causing the methionine (M) at amino acid position 1084 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion RCV004720302 SCV005328802 likely benign Trichohepatoenteric syndrome 2 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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