ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)

gnomAD frequency: 0.00003  dbSNP: rs200718841
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000445456 SCV000536983 likely benign Monogenic diabetes 2016-06-07 criteria provided, single submitter research ACMG Criteria: PP3, BP1, BP4
Counsyl RCV000667911 SCV000792435 uncertain significance Alstrom syndrome 2017-06-23 criteria provided, single submitter clinical testing
Invitae RCV000667911 SCV001543688 uncertain significance Alstrom syndrome 2022-07-04 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 2754 of the ALMS1 protein (p.His2754Asn). This variant is present in population databases (rs200718841, gnomAD 0.01%). 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: 393376). 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 RCV003168711 SCV003912794 uncertain significance Cardiovascular phenotype 2023-03-08 criteria provided, single submitter clinical testing The p.H2754N variant (also known as c.8260C>A), located in coding exon 10 of the ALMS1 gene, results from a C to A substitution at nucleotide position 8260. The histidine at codon 2754 is replaced by asparagine, an amino acid with similar properties. 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000667911 SCV003928174 uncertain significance Alstrom syndrome criteria provided, single submitter research Potent mutations in ALMS1 are associated with a rare condition called Alstrom syndrome. It can cause excessive eating, insulin resistance. However, no evidence is found to ascertain the role of rs200718841 in Alstrom syndrome yet.
Natera, Inc. RCV000667911 SCV002082900 uncertain significance Alstrom syndrome 2021-08-23 no assertion criteria provided clinical testing

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