ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser)

gnomAD frequency: 0.00019  dbSNP: rs182127619
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435076 SCV000535792 uncertain significance not provided 2021-05-06 criteria provided, single submitter clinical testing
Invitae RCV000706052 SCV000835081 uncertain significance Alstrom syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1128 of the ALMS1 protein (p.Pro1128Ser). This variant is present in population databases (rs182127619, gnomAD 0.05%). 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: 392512). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002451051 SCV002618217 uncertain significance Cardiovascular phenotype 2023-03-23 criteria provided, single submitter clinical testing The p.P1128S variant (also known as c.3382C>T), located in coding exon 8 of the ALMS1 gene, results from a C to T substitution at nucleotide position 3382. The proline at codon 1128 is replaced by serine, 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 RCV000706052 SCV002786262 uncertain significance Alstrom syndrome 2022-05-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000706052 SCV002080483 uncertain significance Alstrom syndrome 2021-05-25 no assertion criteria provided clinical testing

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