ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys)

gnomAD frequency: 0.00004  dbSNP: rs375458331
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666680 SCV000791012 uncertain significance Alstrom syndrome 2017-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360693 SCV002666041 uncertain significance Cardiovascular phenotype 2023-01-25 criteria provided, single submitter clinical testing The p.R2286C variant (also known as c.6856C>T), located in coding exon 8 of the ALMS1 gene, results from a C to T substitution at nucleotide position 6856. The arginine at codon 2286 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000666680 SCV002790644 uncertain significance Alstrom syndrome 2021-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666680 SCV003460233 uncertain significance Alstrom syndrome 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2286 of the ALMS1 protein (p.Arg2286Cys). This variant is present in population databases (rs375458331, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 551581). 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.

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