ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys)

gnomAD frequency: 0.00004  dbSNP: rs761486372
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539335 SCV000631785 uncertain significance Alstrom syndrome 2022-09-02 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1757 of the ALMS1 protein (p.Ser1757Cys). This variant is present in population databases (rs761486372, gnomAD 0.02%). 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: 459871). 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 RCV002527704 SCV003555703 uncertain significance Inborn genetic diseases 2021-01-08 criteria provided, single submitter clinical testing The c.5270C>G (p.S1757C) alteration is located in exon 8 (coding exon 8) of the ALMS1 gene. This alteration results from a C to G substitution at nucleotide position 5270, causing the serine (S) at amino acid position 1757 to be replaced by a cysteine (C). The p.S1757C alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000539335 SCV002080527 uncertain significance Alstrom syndrome 2021-08-08 no assertion criteria provided clinical testing

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