ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.665G>A (p.Arg222His)

dbSNP: rs749760246
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001933797 SCV002203595 uncertain significance Severe combined immunodeficiency due to LCK deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 222 of the LCK protein (p.Arg222His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs749760246, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with LCK-related conditions. 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"). 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 RCV004041803 SCV003743942 uncertain significance not specified 2022-09-07 criteria provided, single submitter clinical testing The c.665G>A (p.R222H) alteration is located in exon 8 (coding exon 7) of the LCK gene. This alteration results from a G to A substitution at nucleotide position 665, causing the arginine (R) at amino acid position 222 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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