ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly)

gnomAD frequency: 0.00011  dbSNP: rs367728446
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664707 SCV000788711 uncertain significance Alstrom syndrome 2017-01-06 criteria provided, single submitter clinical testing
Invitae RCV000664707 SCV000945796 uncertain significance Alstrom syndrome 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1949 of the ALMS1 protein (p.Ser1949Gly). This variant is present in population databases (rs367728446, gnomAD 0.04%). 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: 550077). 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.
GeneDx RCV002284421 SCV002574679 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002352083 SCV002649893 uncertain significance Cardiovascular phenotype 2023-04-19 criteria provided, single submitter clinical testing The p.S1949G variant (also known as c.5845A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 5845. The serine at codon 1949 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well 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 RCV000664707 SCV002784460 uncertain significance Alstrom syndrome 2022-04-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000664707 SCV001455460 uncertain significance Alstrom syndrome 2019-10-28 no assertion criteria provided clinical testing

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