ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg)

gnomAD frequency: 0.00002  dbSNP: rs753393562
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001301938 SCV001491123 uncertain significance Alstrom syndrome 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 3518 of the ALMS1 protein (p.His3518Arg). This variant is present in population databases (rs753393562, gnomAD 0.007%). 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: 1005123). 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.
Ambry Genetics RCV002411961 SCV002715446 uncertain significance Cardiovascular phenotype 2022-05-27 criteria provided, single submitter clinical testing The p.H3518R variant (also known as c.10553A>G), located in coding exon 16 of the ALMS1 gene, results from an A to G substitution at nucleotide position 10553. The histidine at codon 3518 is replaced by arginine, an amino acid with highly 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 RCV001301938 SCV002785479 uncertain significance Alstrom syndrome 2022-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001301938 SCV002078974 uncertain significance Alstrom syndrome 2020-11-04 no assertion criteria provided clinical testing

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