ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser)

dbSNP: rs1454233838
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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 RCV002001613 SCV002271982 uncertain significance Alstrom syndrome 2021-09-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 3413 of the ALMS1 protein (p.Ala3413Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALMS1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003224605 SCV003920689 uncertain significance Bardet-Biedl syndrome criteria provided, single submitter research

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