ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp)

dbSNP: rs1558651314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688678 SCV000816300 uncertain significance Alstrom syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 2272 of the ALMS1 protein (p.Asn2272Asp). This variant is not present in population databases (gnomAD no frequency). 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: 568348). 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 RCV002360729 SCV002664108 uncertain significance Cardiovascular phenotype 2023-08-24 criteria provided, single submitter clinical testing The p.N2272D variant (also known as c.6814A>G), located in coding exon 8 of the ALMS1 gene, results from an A to G substitution at nucleotide position 6814. The asparagine at codon 2272 is replaced by aspartic acid, an amino acid with highly similar properties. This variant has been detected in the heterozygous state in an Alstrom syndrome cohort; however, details were limited (Marshall JD et al. Hum Mutat. 2015 Jul;36(7):660-8). This amino acid position is 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.
Natera, Inc. RCV000688678 SCV001463058 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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