ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5867C>A (p.Pro1956Gln)

dbSNP: rs1671963819
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067190 SCV001232236 uncertain significance Alstrom syndrome 2022-03-18 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. ClinVar contains an entry for this variant (Variation ID: 860810). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 1957 of the ALMS1 protein (p.Pro1957Gln).

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