ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.586C>G (p.Pro196Ala)

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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 RCV002700713 SCV002998366 uncertain significance Chédiak-Higashi syndrome 2022-01-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 196 of the LYST protein (p.Pro196Ala). This variant is present in population databases (rs765410057, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with LYST-related conditions. 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 alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003269247 SCV003950105 uncertain significance Inborn genetic diseases 2023-04-11 criteria provided, single submitter clinical testing The c.586C>G (p.P196A) alteration is located in exon 5 (coding exon 3) of the LYST gene. This alteration results from a C to G substitution at nucleotide position 586, causing the proline (P) at amino acid position 196 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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