ClinVar Miner

Submissions for variant NM_000390.4(CHM):c.1645G>C (p.Ala549Pro)

dbSNP: rs1603234322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990892 SCV001141945 uncertain significance Choroideremia 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001858728 SCV002187459 uncertain significance not provided 2021-09-15 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 804044). This variant has not been reported in the literature in individuals affected with CHM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with proline at codon 549 of the CHM protein (p.Ala549Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline.

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